Mutagenetix > Incidental Mutations

Incidental Mutation 'R1764:Erbin'

193323

Institutional Source

Beutler Lab

Gene Symbol

Erbin

Ensembl Gene

ENSMUSG00000021709

Gene Name

Erbb2 interacting protein

Synonyms

1700028E05Rik, Erbb2ip, Erbin

MMRRC Submission

039796-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103818787-103920514 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 103843451 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140536 (fasta)

Gene Model

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

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	T	5: 5,478,943	I24N	possibly damaging	Het
4930522L14Rik	A	G	5: 109,736,789	V401A	probably benign	Het
5830411N06Rik	A	G	7: 140,297,265	E831G	probably benign	Het
9930021J03Rik	T	A	19: 29,719,160	T978S	possibly damaging	Het
Abca7	G	T	10: 80,008,950	W1502L	probably damaging	Het
Adcy7	A	G	8: 88,308,840	E124G	probably benign	Het
Aif1l	G	A	2: 31,965,106	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,395,493	M373L	probably benign	Het
Alg6	T	C	4: 99,741,578	Y131H	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Arrdc4	A	T	7: 68,741,874	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798		probably null	Het
Astn1	T	C	1: 158,504,251	I305T	probably benign	Het
Atp5b	T	A	10: 128,084,080		probably benign	Het
Atp8a1	C	A	5: 67,631,567	M1044I	probably benign	Het
Atp9b	C	T	18: 80,909,591		probably null	Het
Btaf1	A	G	19: 36,951,118	H113R	probably benign	Het
C87436	G	T	6: 86,453,612	C338F	possibly damaging	Het
Casz1	T	C	4: 148,942,900		probably benign	Het
Cbr3	T	A	16: 93,690,482	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,517,099	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,685,340	K77R	probably benign	Het
Cdc34	G	T	10: 79,685,338		probably null	Het
Cdh20	A	G	1: 104,934,345		probably benign	Het
Celsr3	A	G	9: 108,828,958	E880G	probably damaging	Het
Cers1	T	G	8: 70,321,491		probably null	Het
Cntn5	T	C	9: 9,673,983	I705V	probably benign	Het
Dennd4c	T	A	4: 86,803,010	D636E	probably damaging	Het
Dnah11	T	C	12: 118,190,825	E240G	probably benign	Het
Dnah2	T	C	11: 69,423,543	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,363,518	E151G	probably damaging	Het
Efcab9	T	G	11: 32,524,457	T9P	possibly damaging	Het
Eif4g2	A	T	7: 111,074,487	F725Y	probably damaging	Het
Epha6	T	A	16: 59,775,728	I867F	probably null	Het
Evi5l	A	G	8: 4,203,560	E468G	probably damaging	Het
Filip1l	C	T	16: 57,570,038	R330W	probably damaging	Het
Fmo3	C	T	1: 162,958,573	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,533,518	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,522,508		probably benign	Het
Gm13089	C	A	4: 143,698,270	C201F	probably benign	Het
Gm5581	T	A	6: 131,181,399		noncoding transcript	Het
Gon4l	G	T	3: 88,892,599	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,109,046	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,568,694	R85C	probably benign	Het
Kalrn	C	T	16: 34,212,873	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,377	V117E	probably damaging	Het
Mapk11	A	G	15: 89,144,391		probably null	Het
Mcm3	G	A	1: 20,805,879	R664C	probably damaging	Het
Mex3d	A	G	10: 80,386,936	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,643,023	I260T	probably benign	Het
Ncor2	G	T	5: 125,028,615	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,730,907	D441E	probably damaging	Het
Nek5	A	T	8: 22,109,912	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,318,878	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,780,084	T681K	probably damaging	Het
Olfr1306	A	G	2: 111,912,181	F250L	possibly damaging	Het
Olfr538	T	C	7: 140,574,470	W106R	probably damaging	Het
Otogl	C	T	10: 107,899,461	W154*	probably null	Het
Pcdh20	T	C	14: 88,469,184	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,487,271	S705P	probably damaging	Het
Piezo2	T	C	18: 63,124,642	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,793,854	Q954R	probably damaging	Het
Prkcq	G	A	2: 11,232,631	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,189,635		probably null	Het
Rb1cc1	A	G	1: 6,214,680		probably benign	Het
Rbm5	A	T	9: 107,767,564	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Ryr3	C	A	2: 112,860,460	V1082L	probably damaging	Het
Sel1l3	C	A	5: 53,170,447	E497*	probably null	Het
Serpina6	A	T	12: 103,653,923	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,376,802	T166S	probably benign	Het
Skint7	T	C	4: 111,982,073	L188S	probably benign	Het
Slc25a45	C	T	19: 5,884,930	A269V	probably damaging	Het
Sltm	A	G	9: 70,561,800	T114A	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spen	C	A	4: 141,472,950	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,319,537	I445F	possibly damaging	Het
Stox2	A	T	8: 47,194,016	Y200*	probably null	Het
Strada	C	A	11: 106,164,184	R384L	probably damaging	Het
Tctn2	G	A	5: 124,619,031		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,249,282	R461L	probably benign	Het
Tmem65	A	G	15: 58,790,149		probably benign	Het
Tpst1	G	T	5: 130,114,502	V294F	possibly damaging	Het
Trim23	A	G	13: 104,198,618	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,404,617	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,256,179	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,400,643	C561S	probably damaging	Het
Vwa8	A	G	14: 78,908,195	D104G	probably damaging	Het
Wdr25	T	A	12: 109,026,438	L73*	probably null	Het
Wnt9a	G	A	11: 59,330,902	A209T	probably benign	Het
Zcchc17	A	C	4: 130,329,595	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,608,676	M375L	probably benign	Het
Zfhx3	T	C	8: 108,951,644	F3109L	probably benign	Het
Zfp202	T	A	9: 40,210,466	D286E	probably benign	Het
Zzef1	T	C	11: 72,893,332	L2021P	probably benign	Het

Other mutations in Erbin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Erbin	APN	13	103834012	missense	probably damaging	1.00
IGL01404:Erbin	APN	13	103839464	missense	probably damaging	1.00
IGL01455:Erbin	APN	13	103859387	missense	probably damaging	1.00
IGL01871:Erbin	APN	13	103834766	missense	probably damaging	0.98
IGL01930:Erbin	APN	13	103841172	missense	probably damaging	1.00
IGL02112:Erbin	APN	13	103862336	missense	probably benign	0.12
IGL02736:Erbin	APN	13	103839395	missense	probably damaging	1.00
IGL03149:Erbin	APN	13	103841163	missense	possibly damaging	0.82
IGL03169:Erbin	APN	13	103841232	missense	possibly damaging	0.93
IGL02802:Erbin	UTSW	13	103868130	missense	probably damaging	1.00
PIT1430001:Erbin	UTSW	13	103859509	missense	probably damaging	1.00
R0329:Erbin	UTSW	13	103868865	missense	probably damaging	1.00
R0330:Erbin	UTSW	13	103868865	missense	probably damaging	1.00
R0492:Erbin	UTSW	13	103834358	missense	probably damaging	0.98
R0508:Erbin	UTSW	13	103834027	missense	probably damaging	1.00
R0589:Erbin	UTSW	13	103886287	missense	probably damaging	1.00
R1103:Erbin	UTSW	13	103886202	missense	probably benign	0.00
R1139:Erbin	UTSW	13	103884253	missense	probably damaging	1.00
R1316:Erbin	UTSW	13	103841234	missense	possibly damaging	0.94
R1675:Erbin	UTSW	13	103841178	missense	probably damaging	1.00
R1698:Erbin	UTSW	13	103833731	missense	possibly damaging	0.91
R1727:Erbin	UTSW	13	103827968	missense	probably benign	0.01
R1745:Erbin	UTSW	13	103839449	missense	probably damaging	1.00
R1746:Erbin	UTSW	13	103850831	missense	probably damaging	1.00
R1828:Erbin	UTSW	13	103860069	critical splice donor site	probably null
R1840:Erbin	UTSW	13	103834947	missense	probably benign	0.01
R1987:Erbin	UTSW	13	103886203	missense	probably benign	0.36
R1992:Erbin	UTSW	13	103833713	missense	probably benign	0.33
R2013:Erbin	UTSW	13	103857533	missense	probably damaging	1.00
R2025:Erbin	UTSW	13	103830195	missense	probably benign	0.01
R2056:Erbin	UTSW	13	103830316	missense	probably benign	0.27
R2171:Erbin	UTSW	13	103834958	missense	probably benign	0.00
R2366:Erbin	UTSW	13	103844909	missense	probably damaging	1.00
R2897:Erbin	UTSW	13	103886197	missense	probably damaging	1.00
R3912:Erbin	UTSW	13	103862287	missense	probably benign	0.35
R3912:Erbin	UTSW	13	103886338	splice site	probably benign
R4073:Erbin	UTSW	13	103860111	missense	probably damaging	1.00
R4458:Erbin	UTSW	13	103833557	missense	probably damaging	1.00
R4465:Erbin	UTSW	13	103844885	missense	probably benign	0.05
R4525:Erbin	UTSW	13	103857092	missense	probably benign
R4780:Erbin	UTSW	13	103884206	missense	probably damaging	1.00
R4877:Erbin	UTSW	13	103850838	missense	probably damaging	0.99
R4879:Erbin	UTSW	13	103834774	missense	probably benign	0.05
R5396:Erbin	UTSW	13	103857409	critical splice donor site	probably null
R5898:Erbin	UTSW	13	103839305	critical splice donor site	probably null
R5955:Erbin	UTSW	13	103830192	missense	probably benign	0.40
R6073:Erbin	UTSW	13	103844921	nonsense	probably null
R6107:Erbin	UTSW	13	103833892	missense	probably benign	0.06
R6257:Erbin	UTSW	13	103862288	missense	probably benign	0.35
R6294:Erbin	UTSW	13	103857056	missense	probably benign	0.36
R6358:Erbin	UTSW	13	103845565	missense	probably damaging	1.00
R6476:Erbin	UTSW	13	103841247	missense	probably damaging	1.00
R6485:Erbin	UTSW	13	103868113	missense	probably damaging	1.00
R6631:Erbin	UTSW	13	103824892	missense	probably benign	0.02
R6735:Erbin	UTSW	13	103884210	missense	probably damaging	1.00
R6736:Erbin	UTSW	13	103834766	missense	possibly damaging	0.72
R6749:Erbin	UTSW	13	103834377	missense	probably damaging	1.00
R7290:Erbin	UTSW	13	103862326	missense	probably damaging	1.00
R7767:Erbin	UTSW	13	103859399	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAAAGACAGAACATGAGCCTCTCT -3'
(R):5'- AATTGACGCTCTCGACACCAGCCT -3'

Sequencing Primer
(F):5'- GAGCCTCTCTTATGTACAACTAACTG -3'
(R):5'- GTCTTCTCGTAGAAAAGCAGC -3'

Posted On

2014-05-23