Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01536:Erbb4'

89949

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 #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

68071345-69147218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68329441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 636 (Y636F)

Ref Sequence

ENSEMBL: ENSMUSP00000114123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119142] [ENSMUST00000121473] [ENSMUST00000153432]

AlphaFold

Q61527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117740

Predicted Effect

probably benign
Transcript: ENSMUST00000119142
AA Change: Y636F

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

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: Y636F

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
AA Change: Y636F

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

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: Y636F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131148

Predicted Effect

probably benign
Transcript: ENSMUST00000153432

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	1.7e-34	PFAM
FU	183	223	2.07e1	SMART
FU	226	268	5.78e-10	SMART
Pfam:Recep_L_domain	358	478	5.7e-29	PFAM
FU	493	544	6.45e-8	SMART
FU	549	599	3.51e-9	SMART
FU	611	649	2.98e0	SMART
PDB:2R4B\|B	680	732	1e-25	PDB

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5f1a	T	C	18: 77,868,012 (GRCm39)		probably benign	Het
Ccnc	A	G	4: 21,732,505 (GRCm39)	I81V	probably benign	Het
Cep112	A	G	11: 108,422,237 (GRCm39)	D560G	probably null	Het
Dis3	A	G	14: 99,316,859 (GRCm39)	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,038,940 (GRCm39)		probably benign	Het
Enpp4	T	C	17: 44,410,494 (GRCm39)	K361E	possibly damaging	Het
Erap1	A	T	13: 74,810,542 (GRCm39)	K294*	probably null	Het
Fads1	C	A	19: 10,171,394 (GRCm39)	Q342K	probably benign	Het
Fntb	A	T	12: 76,966,904 (GRCm39)	T447S	probably benign	Het
Hdac4	A	G	1: 91,857,868 (GRCm39)		probably benign	Het
Kcnh2	A	G	5: 24,531,522 (GRCm39)	I463T	probably damaging	Het
Kif13a	G	T	13: 46,905,765 (GRCm39)	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,021,966 (GRCm39)	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,873,868 (GRCm39)	S425P	probably benign	Het
Lrp1b	T	C	2: 41,000,895 (GRCm39)	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,606,410 (GRCm39)	T173S	probably benign	Het
Muc4	T	C	16: 32,584,340 (GRCm39)	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,711,677 (GRCm39)	P676L	probably damaging	Het
Or5m10	T	C	2: 85,717,944 (GRCm39)	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,046 (GRCm39)	M426T	probably benign	Het
Pik3cd	A	G	4: 149,737,123 (GRCm39)	V891A	probably damaging	Het
Polr1b	A	G	2: 128,967,475 (GRCm39)	N956S	probably benign	Het
Ppil3	T	C	1: 58,483,750 (GRCm39)	M1V	probably null	Het
Rad1	T	A	15: 10,493,286 (GRCm39)	S238T	possibly damaging	Het
Shc3	A	C	13: 51,670,595 (GRCm39)	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,409,992 (GRCm39)		probably null	Het
Smg5	A	G	3: 88,256,552 (GRCm39)	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,653,424 (GRCm39)		probably null	Het
Sstr4	T	C	2: 148,237,800 (GRCm39)	L137P	probably damaging	Het
Taar8b	C	T	10: 23,967,493 (GRCm39)	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,987,621 (GRCm39)	Y860C	probably damaging	Het
Tll1	A	T	8: 64,527,323 (GRCm39)	S399R	probably damaging	Het
Tns1	T	C	1: 73,958,807 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,188,180 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,562,695 (GRCm39)		probably null	Het
Usp43	T	C	11: 67,746,764 (GRCm39)	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,683,543 (GRCm39)	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,824,136 (GRCm39)	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,387,847 (GRCm39)	K575E	probably damaging	Het
Vmn2r50	C	T	7: 9,771,610 (GRCm39)	C697Y	probably damaging	Het
Zcchc8	A	C	5: 123,858,782 (GRCm39)		probably null	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
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
IGL02399:Erbb4	APN	1	68,081,596 (GRCm39)	splice site	probably benign
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

2013-12-03