Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Erbin'

207036

Institutional Source

Beutler Lab

Gene Symbol

Erbin

Ensembl Gene

ENSMUSG00000021709

Gene Name

Erbb2 interacting protein

Synonyms

1700028E05Rik, Erbb2ip, Erbin

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103955295-104057022 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 103996577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022222] [ENSMUST00000022222] [ENSMUST00000053927] [ENSMUST00000053927] [ENSMUST00000091269] [ENSMUST00000091269] [ENSMUST00000169083] [ENSMUST00000169083] [ENSMUST00000188997] [ENSMUST00000188997] [ENSMUST00000191275]

AlphaFold

Q80TH2

Predicted Effect

probably null
Transcript: ENSMUST00000022222

SMART Domains

Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1294	1374	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000022222

SMART Domains

Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1294	1374	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000053927

SMART Domains

Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1368	1448	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000053927

SMART Domains

Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1368	1448	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000091269

SMART Domains

Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1320	1400	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000091269

SMART Domains

Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1320	1400	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169083

SMART Domains

Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1329	1409	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169083

SMART Domains

Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1329	1409	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188997

SMART Domains

Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1212	1292	3.6e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188997

SMART Domains

Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1212	1292	3.6e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189323

Predicted Effect

probably null
Transcript: ENSMUST00000191275

SMART Domains

Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709

Domain	Start	End	E-Value	Type
LRR	48	68	3.65e0	SMART
LRR	91	114	4.97e0	SMART
LRR	137	159	4.21e1	SMART
LRR	160	182	8.97e0	SMART
LRR	183	205	1.41e0	SMART
LRR	206	228	3.87e1	SMART
LRR	229	252	1.31e0	SMART
LRR	253	274	3.56e2	SMART
LRR	275	298	1.19e1	SMART
LRR	321	344	2.76e1	SMART
LRR	345	366	3.27e2	SMART
LRR	367	389	1.06e1	SMART
low complexity region	534	544	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC
low complexity region	625	642	N/A	INTRINSIC
low complexity region	647	659	N/A	INTRINSIC
PDZ	1368	1448	3.6e-16	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null or gene trapped allele exhibit impaired myelination, reduced nerve conduction, and hyporesponsiveness to tactile stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly damaging	Het

Other mutations in Erbin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Erbin	APN	13	103,970,520 (GRCm39)	missense	probably damaging	1.00
IGL01404:Erbin	APN	13	103,975,972 (GRCm39)	missense	probably damaging	1.00
IGL01455:Erbin	APN	13	103,995,895 (GRCm39)	missense	probably damaging	1.00
IGL01871:Erbin	APN	13	103,971,274 (GRCm39)	missense	probably damaging	0.98
IGL01930:Erbin	APN	13	103,977,680 (GRCm39)	missense	probably damaging	1.00
IGL02112:Erbin	APN	13	103,998,844 (GRCm39)	missense	probably benign	0.12
IGL02736:Erbin	APN	13	103,975,903 (GRCm39)	missense	probably damaging	1.00
IGL03149:Erbin	APN	13	103,977,671 (GRCm39)	missense	possibly damaging	0.82
IGL03169:Erbin	APN	13	103,977,740 (GRCm39)	missense	possibly damaging	0.93
regard	UTSW	13	103,981,429 (GRCm39)	nonsense	probably null
wishes	UTSW	13	103,979,959 (GRCm39)	splice site	probably benign
IGL02802:Erbin	UTSW	13	104,004,638 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Erbin	UTSW	13	103,996,017 (GRCm39)	missense	probably damaging	1.00
R0329:Erbin	UTSW	13	104,005,373 (GRCm39)	missense	probably damaging	1.00
R0330:Erbin	UTSW	13	104,005,373 (GRCm39)	missense	probably damaging	1.00
R0492:Erbin	UTSW	13	103,970,866 (GRCm39)	missense	probably damaging	0.98
R0508:Erbin	UTSW	13	103,970,535 (GRCm39)	missense	probably damaging	1.00
R0589:Erbin	UTSW	13	104,022,795 (GRCm39)	missense	probably damaging	1.00
R1103:Erbin	UTSW	13	104,022,710 (GRCm39)	missense	probably benign	0.00
R1139:Erbin	UTSW	13	104,020,761 (GRCm39)	missense	probably damaging	1.00
R1316:Erbin	UTSW	13	103,977,742 (GRCm39)	missense	possibly damaging	0.94
R1675:Erbin	UTSW	13	103,977,686 (GRCm39)	missense	probably damaging	1.00
R1698:Erbin	UTSW	13	103,970,239 (GRCm39)	missense	possibly damaging	0.91
R1727:Erbin	UTSW	13	103,964,476 (GRCm39)	missense	probably benign	0.01
R1745:Erbin	UTSW	13	103,975,957 (GRCm39)	missense	probably damaging	1.00
R1746:Erbin	UTSW	13	103,987,339 (GRCm39)	missense	probably damaging	1.00
R1764:Erbin	UTSW	13	103,979,959 (GRCm39)	splice site	probably benign
R1840:Erbin	UTSW	13	103,971,455 (GRCm39)	missense	probably benign	0.01
R1987:Erbin	UTSW	13	104,022,711 (GRCm39)	missense	probably benign	0.36
R1992:Erbin	UTSW	13	103,970,221 (GRCm39)	missense	probably benign	0.33
R2013:Erbin	UTSW	13	103,994,041 (GRCm39)	missense	probably damaging	1.00
R2025:Erbin	UTSW	13	103,966,703 (GRCm39)	missense	probably benign	0.01
R2056:Erbin	UTSW	13	103,966,824 (GRCm39)	missense	probably benign	0.27
R2171:Erbin	UTSW	13	103,971,466 (GRCm39)	missense	probably benign	0.00
R2366:Erbin	UTSW	13	103,981,417 (GRCm39)	missense	probably damaging	1.00
R2897:Erbin	UTSW	13	104,022,705 (GRCm39)	missense	probably damaging	1.00
R3912:Erbin	UTSW	13	104,022,846 (GRCm39)	splice site	probably benign
R3912:Erbin	UTSW	13	103,998,795 (GRCm39)	missense	probably benign	0.35
R4073:Erbin	UTSW	13	103,996,619 (GRCm39)	missense	probably damaging	1.00
R4458:Erbin	UTSW	13	103,970,065 (GRCm39)	missense	probably damaging	1.00
R4465:Erbin	UTSW	13	103,981,393 (GRCm39)	missense	probably benign	0.05
R4525:Erbin	UTSW	13	103,993,600 (GRCm39)	missense	probably benign
R4780:Erbin	UTSW	13	104,020,714 (GRCm39)	missense	probably damaging	1.00
R4877:Erbin	UTSW	13	103,987,346 (GRCm39)	missense	probably damaging	0.99
R4879:Erbin	UTSW	13	103,971,282 (GRCm39)	missense	probably benign	0.05
R5396:Erbin	UTSW	13	103,993,917 (GRCm39)	critical splice donor site	probably null
R5898:Erbin	UTSW	13	103,975,813 (GRCm39)	critical splice donor site	probably null
R5955:Erbin	UTSW	13	103,966,700 (GRCm39)	missense	probably benign	0.40
R6073:Erbin	UTSW	13	103,981,429 (GRCm39)	nonsense	probably null
R6107:Erbin	UTSW	13	103,970,400 (GRCm39)	missense	probably benign	0.06
R6257:Erbin	UTSW	13	103,998,796 (GRCm39)	missense	probably benign	0.35
R6294:Erbin	UTSW	13	103,993,564 (GRCm39)	missense	probably benign	0.36
R6358:Erbin	UTSW	13	103,982,073 (GRCm39)	missense	probably damaging	1.00
R6476:Erbin	UTSW	13	103,977,755 (GRCm39)	missense	probably damaging	1.00
R6485:Erbin	UTSW	13	104,004,621 (GRCm39)	missense	probably damaging	1.00
R6631:Erbin	UTSW	13	103,961,400 (GRCm39)	missense	probably benign	0.02
R6735:Erbin	UTSW	13	104,020,718 (GRCm39)	missense	probably damaging	1.00
R6736:Erbin	UTSW	13	103,971,274 (GRCm39)	missense	possibly damaging	0.72
R6749:Erbin	UTSW	13	103,970,885 (GRCm39)	missense	probably damaging	1.00
R7290:Erbin	UTSW	13	103,998,834 (GRCm39)	missense	probably damaging	1.00
R7767:Erbin	UTSW	13	103,995,907 (GRCm39)	missense	probably damaging	1.00
R8052:Erbin	UTSW	13	103,970,864 (GRCm39)	nonsense	probably null
R8104:Erbin	UTSW	13	103,971,485 (GRCm39)	missense	possibly damaging	0.89
R8140:Erbin	UTSW	13	104,056,802 (GRCm39)	splice site	probably null
R8303:Erbin	UTSW	13	103,966,694 (GRCm39)	critical splice donor site	probably null
R8392:Erbin	UTSW	13	103,970,570 (GRCm39)	missense	probably damaging	1.00
R8811:Erbin	UTSW	13	104,022,824 (GRCm39)	missense	probably damaging	1.00
R8924:Erbin	UTSW	13	103,975,966 (GRCm39)	nonsense	probably null
R9267:Erbin	UTSW	13	103,987,292 (GRCm39)	missense	probably damaging	1.00
R9794:Erbin	UTSW	13	103,971,359 (GRCm39)	missense	probably benign
R9799:Erbin	UTSW	13	103,971,384 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTTCTTTAGATATGAGAGCATG -3'
(R):5'- GTAGTTGCGTACACCTTGGC -3'

Sequencing Primer
(F):5'- ACTGAATTGGTACTAATAGAAATGCG -3'
(R):5'- TACACCTTGGCAGGGCTTC -3'

Posted On

2014-06-23