Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02399:Erbb4'

291834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02399

Quality Score

Status

Chromosome

Chromosomal Location

68071345-69147218 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 68081596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119142] [ENSMUST00000121473]

AlphaFold

Q61527

Predicted Effect

probably benign
Transcript: ENSMUST00000119142

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	5e-34	PFAM
FU	183	223	2.07e1	SMART
FU	226	268	5.78e-10	SMART
Pfam:Recep_L_domain	358	478	1e-29	PFAM
FU	493	544	6.45e-8	SMART
FU	549	599	3.51e-9	SMART
FU	611	659	2.32e0	SMART
TyrKc	718	974	7.53e-133	SMART
low complexity region	1007	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121473

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	1.6e-34	PFAM
FU	183	223	2.07e1	SMART
FU	226	268	5.78e-10	SMART
Pfam:Recep_L_domain	358	478	5.5e-29	PFAM
FU	493	544	6.45e-8	SMART
FU	549	599	3.51e-9	SMART
FU	611	659	2.32e0	SMART
TyrKc	718	974	7.53e-133	SMART
low complexity region	1007	1023	N/A	INTRINSIC

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 Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(6) Gene trapped(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	C	T	2: 150,700,413 (GRCm39)		probably benign	Het
Adarb1	G	A	10: 77,131,588 (GRCm39)	P624S	probably benign	Het
Afg3l2	A	T	18: 67,562,110 (GRCm39)	F322I	possibly damaging	Het
Arhgap23	A	G	11: 97,381,831 (GRCm39)		probably benign	Het
Atp13a1	A	G	8: 70,259,751 (GRCm39)	N1114S	probably damaging	Het
C3ar1	T	C	6: 122,826,838 (GRCm39)	N460D	probably benign	Het
Cacna1e	A	G	1: 154,279,493 (GRCm39)	Y1988H	probably damaging	Het
Calr	T	C	8: 85,569,415 (GRCm39)		probably benign	Het
D5Ertd579e	A	G	5: 36,773,529 (GRCm39)	S289P	probably damaging	Het
Fam98a	A	G	17: 75,845,936 (GRCm39)		probably benign	Het
Gm3739	A	T	14: 18,505,274 (GRCm39)	D83E	possibly damaging	Het
Gm5420	A	T	10: 21,567,071 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,135,396 (GRCm39)	V245A	probably damaging	Het
Kptn	C	A	7: 15,861,038 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,735,661 (GRCm39)	C86R	probably damaging	Het
Lrr1	T	A	12: 69,215,665 (GRCm39)	C12*	probably null	Het
Mcf2	T	C	X: 59,180,812 (GRCm39)	D255G	probably damaging	Het
Med13	A	T	11: 86,174,771 (GRCm39)		probably benign	Het
Mthfd1	C	T	12: 76,364,406 (GRCm39)	T735M	probably damaging	Het
Nlrp2	C	T	7: 5,331,809 (GRCm39)	A196T	probably damaging	Het
Nnmt	T	C	9: 48,514,838 (GRCm39)	I60V	probably damaging	Het
Odad2	G	T	18: 7,285,719 (GRCm39)	Q215K	probably benign	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or6ae1	A	T	7: 139,742,513 (GRCm39)	S117T	probably benign	Het
P2rx3	T	C	2: 84,853,571 (GRCm39)	I140V	probably benign	Het
Patj	A	G	4: 98,480,173 (GRCm39)	N1293D	probably damaging	Het
Pitpnm2	G	A	5: 124,278,821 (GRCm39)		probably benign	Het
Ppp1r26	T	G	2: 28,343,292 (GRCm39)	V974G	probably benign	Het
Prrc2b	T	A	2: 32,116,973 (GRCm39)	L1376*	probably null	Het
Rab33a	T	A	X: 47,608,584 (GRCm39)	I36N	probably damaging	Het
Rab3gap1	A	T	1: 127,855,840 (GRCm39)	N493I	possibly damaging	Het
Scara3	C	A	14: 66,170,559 (GRCm39)	G107*	probably null	Het
Siglec1	T	C	2: 130,913,098 (GRCm39)	E1606G	probably benign	Het
Skint9	A	T	4: 112,246,447 (GRCm39)	Y222N	possibly damaging	Het
Slc47a1	A	T	11: 61,253,884 (GRCm39)	I185N	probably damaging	Het
Slc47a2	C	A	11: 61,193,020 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,639,711 (GRCm39)	I506V	probably damaging	Het
Slc9a4	A	C	1: 40,639,942 (GRCm39)	I245L	probably benign	Het
Smarcb1	T	C	10: 75,733,328 (GRCm39)	T357A	probably damaging	Het
Spata31d1d	A	G	13: 59,877,954 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,639,573 (GRCm39)	I874F	probably damaging	Het
Taar7b	A	T	10: 23,876,050 (GRCm39)	I72F	probably damaging	Het
Tacc2	G	A	7: 130,225,129 (GRCm39)	V605I	probably benign	Het
Tef	T	C	15: 81,699,301 (GRCm39)	L34P	probably damaging	Het
Trak2	A	G	1: 58,949,204 (GRCm39)	V532A	probably benign	Het
Usp13	T	A	3: 32,973,209 (GRCm39)	D795E	probably damaging	Het
Vmn1r32	T	A	6: 66,529,913 (GRCm39)	I288F	probably benign	Het
Vmn1r75	T	C	7: 11,615,093 (GRCm39)	I275T	possibly damaging	Het
Zfp871	A	T	17: 32,993,329 (GRCm39)	F615L	probably benign	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	probably benign	Het
Zhx1	T	C	15: 57,917,137 (GRCm39)	I370V	probably damaging	Het

Other mutations in Erbb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Erbb4	APN	1	68,110,789 (GRCm39)	nonsense	probably null
IGL01020:Erbb4	APN	1	68,337,608 (GRCm39)	splice site	probably benign
IGL01349:Erbb4	APN	1	68,385,752 (GRCm39)	missense	probably benign	0.00
IGL01386:Erbb4	APN	1	68,383,090 (GRCm39)	missense	probably damaging	1.00
IGL01516:Erbb4	APN	1	68,367,404 (GRCm39)	nonsense	probably null
IGL01536:Erbb4	APN	1	68,329,441 (GRCm39)	missense	probably benign	0.00
IGL01721:Erbb4	APN	1	68,293,722 (GRCm39)	missense	possibly damaging	0.46
IGL01832:Erbb4	APN	1	68,293,725 (GRCm39)	missense	possibly damaging	0.84
IGL02002:Erbb4	APN	1	68,119,885 (GRCm39)	missense	probably damaging	1.00
IGL02040:Erbb4	APN	1	68,081,694 (GRCm39)	missense	probably damaging	1.00
IGL02371:Erbb4	APN	1	68,329,453 (GRCm39)	missense	probably benign	0.00
IGL02553:Erbb4	APN	1	68,345,023 (GRCm39)	missense	probably benign	0.17
IGL03118:Erbb4	APN	1	68,081,878 (GRCm39)	missense	probably benign	0.11
IGL03329:Erbb4	APN	1	68,367,281 (GRCm39)	missense	probably benign	0.30
IGL03405:Erbb4	APN	1	68,369,397 (GRCm39)	missense	probably benign	0.02
earthworm	UTSW	1	68,289,739 (GRCm39)	missense	possibly damaging	0.67
excrescence	UTSW	1	68,369,405 (GRCm39)	missense	probably damaging	1.00
Mole	UTSW	1	68,599,735 (GRCm39)	missense	probably damaging	1.00
P0018:Erbb4	UTSW	1	68,110,835 (GRCm39)	missense	probably benign	0.05
PIT4480001:Erbb4	UTSW	1	68,114,702 (GRCm39)	missense	probably damaging	1.00
R0193:Erbb4	UTSW	1	68,083,119 (GRCm39)	intron	probably benign
R0329:Erbb4	UTSW	1	68,337,439 (GRCm39)	splice site	probably benign
R0335:Erbb4	UTSW	1	68,298,418 (GRCm39)	missense	probably benign
R0362:Erbb4	UTSW	1	68,369,429 (GRCm39)	missense	probably damaging	0.99
R0579:Erbb4	UTSW	1	68,081,621 (GRCm39)	missense	probably benign	0.17
R0730:Erbb4	UTSW	1	68,298,449 (GRCm39)	missense	probably damaging	0.98
R1029:Erbb4	UTSW	1	68,348,773 (GRCm39)	missense	probably damaging	0.96
R1444:Erbb4	UTSW	1	68,293,759 (GRCm39)	missense	probably damaging	1.00
R1469:Erbb4	UTSW	1	68,599,841 (GRCm39)	missense	probably damaging	0.99
R1469:Erbb4	UTSW	1	68,599,841 (GRCm39)	missense	probably damaging	0.99
R1503:Erbb4	UTSW	1	68,385,705 (GRCm39)	missense	probably benign	0.00
R1523:Erbb4	UTSW	1	68,435,411 (GRCm39)	missense	possibly damaging	0.95
R1528:Erbb4	UTSW	1	68,117,741 (GRCm39)	nonsense	probably null
R1604:Erbb4	UTSW	1	68,385,728 (GRCm39)	missense	possibly damaging	0.88
R1611:Erbb4	UTSW	1	68,079,547 (GRCm39)	missense	probably damaging	1.00
R1642:Erbb4	UTSW	1	68,370,393 (GRCm39)	missense	probably damaging	1.00
R1905:Erbb4	UTSW	1	68,114,569 (GRCm39)	splice site	probably benign
R1929:Erbb4	UTSW	1	68,238,047 (GRCm39)	missense	probably damaging	0.98
R2046:Erbb4	UTSW	1	68,337,482 (GRCm39)	missense	probably benign	0.02
R2139:Erbb4	UTSW	1	68,385,788 (GRCm39)	missense	probably damaging	0.96
R2271:Erbb4	UTSW	1	68,238,047 (GRCm39)	missense	probably damaging	0.98
R2298:Erbb4	UTSW	1	68,081,690 (GRCm39)	missense	probably damaging	1.00
R2356:Erbb4	UTSW	1	68,117,755 (GRCm39)	missense	probably benign	0.00
R3821:Erbb4	UTSW	1	68,345,072 (GRCm39)	missense	probably damaging	0.97
R4007:Erbb4	UTSW	1	68,779,560 (GRCm39)	missense	probably damaging	1.00
R4012:Erbb4	UTSW	1	68,599,735 (GRCm39)	missense	probably damaging	1.00
R4077:Erbb4	UTSW	1	68,079,496 (GRCm39)	missense	probably benign	0.07
R4196:Erbb4	UTSW	1	68,383,014 (GRCm39)	missense	possibly damaging	0.90
R4536:Erbb4	UTSW	1	68,385,781 (GRCm39)	missense	probably damaging	1.00
R4561:Erbb4	UTSW	1	68,383,080 (GRCm39)	nonsense	probably null
R4642:Erbb4	UTSW	1	68,289,791 (GRCm39)	missense	probably damaging	1.00
R4737:Erbb4	UTSW	1	68,383,059 (GRCm39)	missense	probably damaging	0.98
R4739:Erbb4	UTSW	1	68,383,059 (GRCm39)	missense	probably damaging	0.98
R4780:Erbb4	UTSW	1	68,337,473 (GRCm39)	missense	probably damaging	1.00
R4801:Erbb4	UTSW	1	68,369,405 (GRCm39)	missense	probably damaging	1.00
R4802:Erbb4	UTSW	1	68,369,405 (GRCm39)	missense	probably damaging	1.00
R4811:Erbb4	UTSW	1	68,293,703 (GRCm39)	missense	probably damaging	1.00
R4832:Erbb4	UTSW	1	68,369,397 (GRCm39)	missense	probably benign	0.02
R5068:Erbb4	UTSW	1	68,083,061 (GRCm39)	splice site	probably null
R5546:Erbb4	UTSW	1	68,337,452 (GRCm39)	missense	probably damaging	0.99
R5755:Erbb4	UTSW	1	68,599,678 (GRCm39)	missense	possibly damaging	0.96
R6189:Erbb4	UTSW	1	68,083,075 (GRCm39)	missense	probably benign
R6257:Erbb4	UTSW	1	68,435,432 (GRCm39)	missense	probably damaging	1.00
R6276:Erbb4	UTSW	1	68,599,735 (GRCm39)	missense	probably damaging	1.00
R6521:Erbb4	UTSW	1	68,081,689 (GRCm39)	missense	probably damaging	1.00
R6602:Erbb4	UTSW	1	68,409,662 (GRCm39)	missense	probably damaging	0.99
R6808:Erbb4	UTSW	1	68,079,462 (GRCm39)	missense	probably benign	0.00
R7087:Erbb4	UTSW	1	68,779,650 (GRCm39)	missense	probably null	1.00
R7215:Erbb4	UTSW	1	68,378,619 (GRCm39)	missense	probably benign
R7356:Erbb4	UTSW	1	68,378,514 (GRCm39)	critical splice donor site	probably null
R7509:Erbb4	UTSW	1	68,289,739 (GRCm39)	missense	possibly damaging	0.67
R7593:Erbb4	UTSW	1	68,293,758 (GRCm39)	missense	probably damaging	0.99
R7743:Erbb4	UTSW	1	68,367,278 (GRCm39)	missense	probably benign	0.00
R7784:Erbb4	UTSW	1	68,114,658 (GRCm39)	missense	probably damaging	1.00
R7815:Erbb4	UTSW	1	68,081,885 (GRCm39)	missense	probably damaging	1.00
R7923:Erbb4	UTSW	1	68,298,368 (GRCm39)	missense	probably damaging	1.00
R8071:Erbb4	UTSW	1	68,435,470 (GRCm39)	missense	probably damaging	1.00
R8288:Erbb4	UTSW	1	68,337,509 (GRCm39)	missense	probably damaging	1.00
R8356:Erbb4	UTSW	1	68,110,789 (GRCm39)	missense	probably damaging	1.00
R8456:Erbb4	UTSW	1	68,110,789 (GRCm39)	missense	probably damaging	1.00
R8464:Erbb4	UTSW	1	68,348,785 (GRCm39)	missense	probably benign
R8783:Erbb4	UTSW	1	68,079,331 (GRCm39)	missense	possibly damaging	0.95
R8830:Erbb4	UTSW	1	68,114,627 (GRCm39)	missense	probably damaging	1.00
R8881:Erbb4	UTSW	1	68,382,997 (GRCm39)	critical splice donor site	probably null
R9053:Erbb4	UTSW	1	68,289,779 (GRCm39)	missense	possibly damaging	0.63
R9142:Erbb4	UTSW	1	68,388,552 (GRCm39)	missense	probably damaging	1.00
R9237:Erbb4	UTSW	1	68,081,601 (GRCm39)	missense	possibly damaging	0.72
R9350:Erbb4	UTSW	1	68,329,638 (GRCm39)	missense	probably benign	0.00
R9374:Erbb4	UTSW	1	68,779,642 (GRCm39)	nonsense	probably null
R9434:Erbb4	UTSW	1	68,081,773 (GRCm39)	missense	possibly damaging	0.84
R9499:Erbb4	UTSW	1	68,779,642 (GRCm39)	nonsense	probably null
R9551:Erbb4	UTSW	1	68,779,642 (GRCm39)	nonsense	probably null
R9753:Erbb4	UTSW	1	68,238,062 (GRCm39)	missense	probably benign	0.00
X0019:Erbb4	UTSW	1	68,112,304 (GRCm39)	missense	probably benign	0.00
Z1176:Erbb4	UTSW	1	68,367,418 (GRCm39)	nonsense	probably null
Z1176:Erbb4	UTSW	1	68,337,561 (GRCm39)	frame shift	probably null
Z1177:Erbb4	UTSW	1	68,348,802 (GRCm39)	missense	probably benign	0.06
Z1177:Erbb4	UTSW	1	68,329,635 (GRCm39)	missense	probably damaging	1.00
Z1177:Erbb4	UTSW	1	68,298,342 (GRCm39)	frame shift	probably null

Posted On

2015-04-16