Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Erbin'

410999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erbin

Ensembl Gene

ENSMUSG00000021709

Gene Name

Erbb2 interacting protein

Synonyms

1700028E05Rik, Erbb2ip, Erbin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

103955295-104057022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103977671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 629 (N629D)

Ref Sequence

ENSEMBL: ENSMUSP00000140536 (fasta)

Gene Model

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

AlphaFold

Q80TH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022222
AA Change: N629D

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: N629D

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

possibly damaging
Transcript: ENSMUST00000053927
AA Change: N629D

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: N629D

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

possibly damaging
Transcript: ENSMUST00000091269
AA Change: N629D

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: N629D

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: N629D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: N629D

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: N629D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: N629D

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

possibly damaging
Transcript: ENSMUST00000191275
AA Change: N629D

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: N629D

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Arsj	A	T	3: 126,233,053 (GRCm39)		probably benign	Het
Ash2l	A	G	8: 26,308,650 (GRCm39)	V543A	probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Ikzf5	T	C	7: 130,998,494 (GRCm39)	K13E	probably damaging	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Klhl7	G	A	5: 24,364,687 (GRCm39)	V574I	probably benign	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Ppm1k	C	A	6: 57,501,759 (GRCm39)	A135S	probably damaging	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Tmc4	T	A	7: 3,670,177 (GRCm39)	I484L	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,994,041 (GRCm39)	M391V	probably benign	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	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
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
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

Posted On

2016-08-02