Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01404:Erbin'

79747

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 #

IGL01404

Quality Score

Status

Chromosome

Chromosomal Location

103955295-104057022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103975972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 641 (S641T)

Ref Sequence

ENSEMBL: ENSMUSP00000022222 (fasta)

Gene Model

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

AlphaFold

Q80TH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022222
AA Change: S641T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: S641T

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 damaging
Transcript: ENSMUST00000053927
AA Change: S641T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: S641T

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 damaging
Transcript: ENSMUST00000091269
AA Change: S641T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: S641T

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 damaging
Transcript: ENSMUST00000169083
AA Change: S641T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: S641T

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 damaging
Transcript: ENSMUST00000188997
AA Change: S641T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: S641T

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 damaging
Transcript: ENSMUST00000191275
AA Change: S641T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: S641T

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,152 (GRCm39)		probably null	Het
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Adam2	C	T	14: 66,314,659 (GRCm39)		probably null	Het
Adgre4	A	T	17: 56,104,639 (GRCm39)	N235I	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
B430306N03Rik	A	G	17: 48,628,101 (GRCm39)	Y177C	probably damaging	Het
Cast	A	T	13: 74,886,406 (GRCm39)	Y249*	probably null	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa4	T	C	6: 30,581,701 (GRCm39)	I216T	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Ctnnal1	T	C	4: 56,829,590 (GRCm39)	D413G	probably damaging	Het
Cyb5a	A	G	18: 84,895,985 (GRCm39)	S84G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
Espn	T	A	4: 152,222,901 (GRCm39)	T326S	probably benign	Het
Extl1	T	C	4: 134,086,514 (GRCm39)	M514V	probably benign	Het
Fancc	G	A	13: 63,509,452 (GRCm39)	L134F	probably damaging	Het
Fis1	C	T	5: 136,994,828 (GRCm39)	A90V	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kcp	C	A	6: 29,496,638 (GRCm39)	C624F	probably damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mib2	T	A	4: 155,739,393 (GRCm39)	E862V	probably damaging	Het
Myh1	G	T	11: 67,112,977 (GRCm39)	R1827L	possibly damaging	Het
Myh10	T	C	11: 68,642,866 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,706 (GRCm39)	I559T	probably damaging	Het
Nod2	A	T	8: 89,390,364 (GRCm39)	M224L	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or52n4	A	T	7: 104,293,687 (GRCm39)	Y295*	probably null	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Pex7	G	T	10: 19,770,557 (GRCm39)		probably benign	Het
Ptprb	A	T	10: 116,175,341 (GRCm39)	D1112V	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sec14l2	T	C	11: 4,066,710 (GRCm39)	D34G	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Sh3bp5l	A	T	11: 58,236,886 (GRCm39)	H281L	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
Slc2a1	T	A	4: 118,989,435 (GRCm39)	M45K	possibly damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Trabd2b	A	G	4: 114,457,153 (GRCm39)	I357V	probably benign	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r103	A	G	17: 20,032,696 (GRCm39)	I823M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Vwa3b	C	T	1: 37,193,117 (GRCm39)	T11I	probably benign	Het
Vwf	A	C	6: 125,654,933 (GRCm39)	Q2543P	probably damaging	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het
Zfyve9	T	G	4: 108,539,348 (GRCm39)	Y975S	probably 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
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
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

2013-11-05