Mutagenetix > Incidental Mutation

Incidental Mutation 'R1992:Erbin'

223730

Institutional Source

Beutler Lab

Gene Symbol

Erbin

Ensembl Gene

ENSMUSG00000021709

Gene Name

Erbb2 interacting protein

Synonyms

1700028E05Rik, Erbb2ip, Erbin

MMRRC Submission

040003-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1992 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103955295-104057022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103970221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1132 (S1132T)

Ref Sequence

ENSEMBL: ENSMUSP00000140536 (fasta)

Gene Model

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

AlphaFold

Q80TH2

Predicted Effect

probably benign
Transcript: ENSMUST00000022222
AA Change: S1132T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: S1132T

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 benign
Transcript: ENSMUST00000053927
AA Change: S1132T

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: S1132T

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 benign
Transcript: ENSMUST00000091269
AA Change: S1132T

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: S1132T

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 benign
Transcript: ENSMUST00000169083
AA Change: S1132T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: S1132T

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 benign
Transcript: ENSMUST00000188997
AA Change: S1132T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: S1132T

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 benign
Transcript: ENSMUST00000191275
AA Change: S1132T

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: S1132T

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	C	1: 138,781,380 (GRCm39)	T90A	probably damaging	Het
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Adam34l	T	C	8: 44,080,176 (GRCm39)	K16R	probably benign	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrl2	A	G	3: 148,522,880 (GRCm39)	I217T	possibly damaging	Het
Afap1l1	A	T	18: 61,874,842 (GRCm39)	Y446*	probably null	Het
Aimp2	G	A	5: 143,843,548 (GRCm39)	A14V	probably damaging	Het
Akap8	G	A	17: 32,535,586 (GRCm39)	H143Y	probably damaging	Het
Aldh2	A	T	5: 121,714,026 (GRCm39)	V207E	possibly damaging	Het
Aoc1l2	T	A	6: 48,907,703 (GRCm39)	H234Q	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Arpp21	T	C	9: 111,986,861 (GRCm39)	E230G	probably damaging	Het
Arrdc3	G	A	13: 81,031,808 (GRCm39)	D14N	probably damaging	Het
Atn1	A	G	6: 124,722,291 (GRCm39)		probably benign	Het
Atxn7l1	G	A	12: 33,408,743 (GRCm39)	D302N	probably damaging	Het
Bbs1	T	A	19: 4,941,736 (GRCm39)	H518L	probably benign	Het
Bltp1	A	T	3: 37,054,181 (GRCm39)	H3100L	probably benign	Het
Bmpr1a	C	A	14: 34,147,050 (GRCm39)	G241C	probably damaging	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Calcrl	T	C	2: 84,200,855 (GRCm39)	Y63C	probably damaging	Het
Cand2	A	G	6: 115,762,093 (GRCm39)	H173R	possibly damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Card14	A	T	11: 119,212,647 (GRCm39)		probably null	Het
Cd3d	T	A	9: 44,896,299 (GRCm39)	Y29*	probably null	Het
Cd4	A	G	6: 124,844,651 (GRCm39)	V378A	possibly damaging	Het
Cluh	A	T	11: 74,550,828 (GRCm39)	H318L	probably damaging	Het
Clvs1	T	A	4: 9,281,899 (GRCm39)	D114E	probably benign	Het
Cnot4	T	A	6: 35,000,344 (GRCm39)	T548S	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Crebbp	A	T	16: 3,946,561 (GRCm39)		probably null	Het
Dnah7a	T	G	1: 53,621,835 (GRCm39)	K1097Q	possibly damaging	Het
Doc2a	T	A	7: 126,450,979 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Egr2	T	C	10: 67,375,857 (GRCm39)	V164A	probably damaging	Het
Espn	T	A	4: 152,213,012 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,399,304 (GRCm39)	S600P	probably benign	Het
Fanca	A	T	8: 124,024,551 (GRCm39)	N425K	possibly damaging	Het
Flot2	C	T	11: 77,949,445 (GRCm39)	L294F	probably damaging	Het
Frs2	A	G	10: 116,910,459 (GRCm39)	V301A	probably benign	Het
Fv1	T	A	4: 147,953,618 (GRCm39)	N61K	possibly damaging	Het
Fxr2	A	G	11: 69,540,659 (GRCm39)	E339G	possibly damaging	Het
Gck	T	C	11: 5,856,515 (GRCm39)	Y214C	probably damaging	Het
Golga3	C	G	5: 110,340,839 (GRCm39)	T551R	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T13	A	C	17: 36,391,938 (GRCm39)	I216S	probably damaging	Het
Herc4	T	A	10: 63,081,743 (GRCm39)	V22E	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa2	A	T	6: 52,141,576 (GRCm39)	S17T	probably damaging	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Ism1	G	A	2: 139,587,937 (GRCm39)	V221I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kdm4c	A	G	4: 74,261,631 (GRCm39)	D602G	possibly damaging	Het
Ktn1	A	G	14: 47,932,978 (GRCm39)	K711E	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Maml3	C	T	3: 51,598,178 (GRCm39)	M189I	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mep1a	T	G	17: 43,813,573 (GRCm39)	I13L	probably benign	Het
Mkrn2	G	T	6: 115,586,562 (GRCm39)	C16F	probably damaging	Het
Mlh1	C	T	9: 111,057,631 (GRCm39)	A727T	probably damaging	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Naa16	T	C	14: 79,593,931 (GRCm39)	Y344C	probably damaging	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nlrc4	T	A	17: 74,752,628 (GRCm39)	Y585F	probably benign	Het
Nrcam	A	G	12: 44,587,753 (GRCm39)	K149R	probably damaging	Het
Nufip1	T	A	14: 76,372,287 (GRCm39)	I467N	probably damaging	Het
Nup133	A	G	8: 124,632,960 (GRCm39)	I1057T	possibly damaging	Het
Obscn	A	T	11: 58,886,653 (GRCm39)		probably benign	Het
Or10ag52	T	A	2: 87,043,588 (GRCm39)	C117*	probably null	Het
Or5k1	A	G	16: 58,617,309 (GRCm39)	V300A	probably benign	Het
Or5k14	A	C	16: 58,692,874 (GRCm39)	I213R	probably benign	Het
Pi4k2a	A	T	19: 42,104,377 (GRCm39)	I380F	probably damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pik3cg	A	T	12: 32,254,024 (GRCm39)	D654E	possibly damaging	Het
Poli	G	T	18: 70,642,058 (GRCm39)	P714Q	probably damaging	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Prorp	A	G	12: 55,384,991 (GRCm39)	D89G	probably damaging	Het
Ptprz1	A	T	6: 22,959,747 (GRCm39)	K81N	probably benign	Het
Rbm19	T	C	5: 120,271,948 (GRCm39)		probably null	Het
Sec24a	C	T	11: 51,627,190 (GRCm39)	V241I	probably benign	Het
Sgk3	A	G	1: 9,950,567 (GRCm39)	T160A	possibly damaging	Het
Slc1a4	A	G	11: 20,254,375 (GRCm39)	I497T	probably benign	Het
Slc26a9	A	T	1: 131,690,532 (GRCm39)	D512V	probably damaging	Het
Slc43a3	C	T	2: 84,788,084 (GRCm39)	R489C	probably damaging	Het
Slc5a12	T	A	2: 110,452,089 (GRCm39)	F327L	probably benign	Het
Slitrk3	A	G	3: 72,957,104 (GRCm39)	V556A	possibly damaging	Het
Spata6l	A	G	19: 28,926,024 (GRCm39)	F130L	probably damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint2	T	A	7: 28,958,833 (GRCm39)	N128Y	probably damaging	Het
Spx	G	A	6: 142,364,245 (GRCm39)	G102E	probably benign	Het
Spz1	T	A	13: 92,712,166 (GRCm39)	E103D	possibly damaging	Het
Sstr2	T	C	11: 113,515,495 (GRCm39)	I138T	probably benign	Het
Sytl3	T	A	17: 7,000,448 (GRCm39)	I206N	possibly damaging	Het
Tcaf2	T	C	6: 42,606,791 (GRCm39)	T388A	probably benign	Het
Tdpoz8	G	T	3: 92,981,344 (GRCm39)	A121S	probably benign	Het
Thap12	T	C	7: 98,365,572 (GRCm39)	V580A	possibly damaging	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim43a	T	G	9: 88,466,312 (GRCm39)	L211R	probably damaging	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Ttll8	T	C	15: 88,798,654 (GRCm39)	T694A	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ube3a	C	T	7: 58,953,535 (GRCm39)	A823V	probably damaging	Het
Ubqln5	C	A	7: 103,778,741 (GRCm39)	V28F	probably damaging	Het
Ulk1	T	A	5: 110,935,017 (GRCm39)	Q972L	probably damaging	Het
Unc93b1	T	C	19: 3,994,062 (GRCm39)	Y398H	probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Utp15	A	G	13: 98,387,420 (GRCm39)	C385R	probably benign	Het
Vmn2r91	T	A	17: 18,356,142 (GRCm39)	V603D	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Yjefn3	A	T	8: 70,341,645 (GRCm39)		probably null	Het
Ywhab	A	T	2: 163,853,807 (GRCm39)	I95F	probably damaging	Het
Zfp143	C	T	7: 109,660,489 (GRCm39)		probably benign	Het
Zfp607b	C	G	7: 27,401,949 (GRCm39)	T135R	possibly damaging	Het
Zfp970	A	G	2: 177,166,663 (GRCm39)	Q79R	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
R1828:Erbin	UTSW	13	103,996,577 (GRCm39)	critical splice donor site	probably null
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
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'- AGTACTTGTTCCCGCCAGTC -3'
(R):5'- GAATGACCGACTAGTGCCAG -3'

Sequencing Primer
(F):5'- CCAGTCATGAGGAACCTTGC -3'
(R):5'- GTCACTCGGACTACTATTCAGAG -3'

Posted On

2014-08-25