Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01871:Erbin'

178699

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 #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

103955295-104057022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103971274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 781 (S781P)

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: S781P

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: S781P

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: S781P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: S781P

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: S781P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: S781P

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

possibly damaging
Transcript: ENSMUST00000169083
AA Change: S781P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: S781P

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

possibly damaging
Transcript: ENSMUST00000188997
AA Change: S781P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: S781P

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 damaging
Transcript: ENSMUST00000191275
AA Change: S781P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: S781P

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,620,513 (GRCm39)		probably null	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Asxl2	G	T	12: 3,552,112 (GRCm39)	V1285L	probably benign	Het
Bdp1	A	T	13: 100,202,561 (GRCm39)	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,846,311 (GRCm39)	I357F	probably damaging	Het
Clasp1	A	T	1: 118,498,619 (GRCm39)	I884F	probably damaging	Het
Cpne4	T	G	9: 104,802,956 (GRCm39)	M200R	possibly damaging	Het
Cyp2d10	T	A	15: 82,288,086 (GRCm39)	D180V	probably damaging	Het
Dicer1	A	T	12: 104,670,439 (GRCm39)	V1042D	probably damaging	Het
Dlc1	G	A	8: 37,317,334 (GRCm39)	T447I	probably damaging	Het
Efl1	T	C	7: 82,412,527 (GRCm39)	M972T	possibly damaging	Het
Galnt4	G	A	10: 98,945,103 (GRCm39)	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gmppa	A	G	1: 75,413,661 (GRCm39)	I41V	probably damaging	Het
Golga1	C	T	2: 38,940,210 (GRCm39)		probably benign	Het
H2-Ob	G	T	17: 34,461,519 (GRCm39)	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,066,885 (GRCm39)	R482H	unknown	Het
L2hgdh	T	C	12: 69,768,869 (GRCm39)	E81G	probably damaging	Het
Mre11a	T	C	9: 14,723,193 (GRCm39)	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,927,258 (GRCm39)	T372A	probably benign	Het
Ncapg	T	A	5: 45,845,923 (GRCm39)	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,488,768 (GRCm39)	W250*	probably null	Het
Neb	T	C	2: 52,043,081 (GRCm39)	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,313,711 (GRCm39)	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,489,924 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,946,964 (GRCm39)	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,045,768 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,600,951 (GRCm39)	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,028,704 (GRCm39)	T392A	possibly damaging	Het
Rhov	G	T	2: 119,101,219 (GRCm39)	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,768,110 (GRCm39)		probably benign	Het
Spaca1	T	A	4: 34,040,894 (GRCm39)	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,443,189 (GRCm39)	E107G	probably damaging	Het
Tent5b	A	G	4: 133,213,620 (GRCm39)	I164V	possibly damaging	Het
Timm22	T	C	11: 76,298,263 (GRCm39)	V78A	probably damaging	Het
Usp47	T	C	7: 111,676,993 (GRCm39)		probably benign	Het
Utp4	A	C	8: 107,638,949 (GRCm39)	K419T	probably benign	Het
Zfp410	T	C	12: 84,372,565 (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
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

2014-05-07