Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02626:Grb10'

301109

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grb10

Ensembl Gene

ENSMUSG00000020176

Gene Name

growth factor receptor bound protein 10

Synonyms

5730571D09Rik, Meg1, maternally expressed gene 1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

IGL02626

Quality Score

Status

Chromosome

Chromosomal Location

11880499-11987428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11895503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 329 (T329A)

Ref Sequence

ENSEMBL: ENSMUSP00000091011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093321] [ENSMUST00000109653] [ENSMUST00000109654]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093321
AA Change: T329A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176
AA Change: T329A

Domain	Start	End	E-Value	Type
low complexity region	92	119	N/A	INTRINSIC
RA	169	253	2.56e-20	SMART
PH	294	404	7.13e-10	SMART
Pfam:BPS	427	473	6.4e-31	PFAM
SH2	493	582	7.78e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109653

SMART Domains

Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176

Domain	Start	End	E-Value	Type
low complexity region	92	119	N/A	INTRINSIC
RA	169	253	2.56e-20	SMART
Blast:PH	285	358	1e-44	BLAST
Pfam:BPS	381	428	3.5e-33	PFAM
SH2	447	536	7.78e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109654
AA Change: T274A

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

SMART Domains

Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176
AA Change: T274A

Domain	Start	End	E-Value	Type
RA	114	198	5.45e-24	SMART
PH	239	349	7.13e-10	SMART
Pfam:BPS	372	419	5.4e-33	PFAM
SH2	438	527	7.78e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148254

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
PHENOTYPE: Maternal transmission of a mutant allele results in both fetal and placental overgrowth. Disproportionate overgrowth of the liver is observed. Paternal transmission of an allele lacking the differentially methylated region results in growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,810 (GRCm39)	K1236E	probably damaging	Het
Actl7a	A	T	4: 56,744,353 (GRCm39)	E293D	possibly damaging	Het
Adamts2	T	C	11: 50,667,082 (GRCm39)	Y460H	probably damaging	Het
Aoc1	G	A	6: 48,883,044 (GRCm39)	V307I	probably benign	Het
Ar	C	T	X: 97,358,492 (GRCm39)	H756Y	probably damaging	Het
Atg3	C	T	16: 45,004,048 (GRCm39)	R224W	probably benign	Het
Atp5po	G	A	16: 91,483,201 (GRCm39)	P47S	probably damaging	Het
Bicd1	A	G	6: 149,311,054 (GRCm39)	E43G	probably damaging	Het
Ccdc88c	A	G	12: 100,934,059 (GRCm39)		probably benign	Het
Cd33	A	G	7: 43,179,736 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,002,126 (GRCm39)	R292*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh23	T	C	10: 60,227,580 (GRCm39)	D1167G	probably damaging	Het
Cdk5rap1	A	G	2: 154,207,880 (GRCm39)		probably null	Het
Chd6	A	G	2: 160,881,270 (GRCm39)		probably benign	Het
Chd7	A	T	4: 8,826,519 (GRCm39)	Y961F	probably damaging	Het
Cpe	T	C	8: 65,145,829 (GRCm39)	E52G	probably benign	Het
Cpne5	C	T	17: 29,379,311 (GRCm39)	G491S	probably damaging	Het
Csmd3	A	T	15: 47,567,503 (GRCm39)		probably benign	Het
Ctbp2	T	A	7: 132,600,940 (GRCm39)	T608S	probably benign	Het
Cybb	A	G	X: 9,335,439 (GRCm39)		probably null	Het
Daam2	T	C	17: 49,797,282 (GRCm39)	T168A	possibly damaging	Het
Dnah5	G	T	15: 28,307,422 (GRCm39)	V1717F	possibly damaging	Het
Dse	G	A	10: 34,029,158 (GRCm39)	T644I	probably damaging	Het
Dtd2	A	C	12: 52,051,708 (GRCm39)	Y45*	probably null	Het
Fgfr1op2	T	A	6: 146,491,509 (GRCm39)	M124K	probably benign	Het
Flii	T	C	11: 60,610,685 (GRCm39)	D537G	probably benign	Het
Fntb	T	A	12: 76,944,145 (GRCm39)	I217N	probably benign	Het
Foxi1	A	G	11: 34,155,860 (GRCm39)	S257P	probably benign	Het
Fyn	G	A	10: 39,402,798 (GRCm39)	R190H	probably damaging	Het
Gm28557	T	A	13: 67,223,008 (GRCm39)	T8S	probably benign	Het
Gramd1b	T	C	9: 40,209,306 (GRCm39)	K873E	probably damaging	Het
Haus5	A	G	7: 30,356,675 (GRCm39)	L477P	probably damaging	Het
Hectd4	A	T	5: 121,491,944 (GRCm39)	E3761V	possibly damaging	Het
Ift172	T	C	5: 31,421,840 (GRCm39)	I930V	probably benign	Het
Itprid1	T	A	6: 55,945,631 (GRCm39)	V784D	probably benign	Het
Izumo2	A	G	7: 44,358,560 (GRCm39)		probably benign	Het
Map4k4	A	G	1: 40,053,257 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,436,123 (GRCm39)	S753G	probably damaging	Het
Mpzl2	C	T	9: 44,955,590 (GRCm39)	T167I	probably damaging	Het
Mta2	T	A	19: 8,926,532 (GRCm39)	I491N	probably damaging	Het
Myo18b	A	T	5: 113,025,951 (GRCm39)	I33N	unknown	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Or10ak13	T	C	4: 118,639,531 (GRCm39)	M84V	probably damaging	Het
Or4f58	A	T	2: 111,851,458 (GRCm39)	V247E	probably damaging	Het
Or5d47	T	C	2: 87,804,068 (GRCm39)	N314D	probably benign	Het
Or8d2b	T	C	9: 38,788,784 (GRCm39)	L104S	probably benign	Het
Ralyl	A	T	3: 13,842,094 (GRCm39)	M77L	probably benign	Het
Rap1gap	T	A	4: 137,454,364 (GRCm39)	V649E	probably benign	Het
Rnf40	C	A	7: 127,195,744 (GRCm39)	Q663K	probably damaging	Het
Slc22a18	T	C	7: 143,052,837 (GRCm39)	L354P	probably damaging	Het
Slc9a8	T	C	2: 167,309,597 (GRCm39)		probably benign	Het
Surf4	C	T	2: 26,815,619 (GRCm39)		probably null	Het
T	A	T	17: 8,654,069 (GRCm39)	N85Y	probably damaging	Het
Tanc1	A	G	2: 59,630,216 (GRCm39)	E732G	probably damaging	Het
Tas2r138	A	G	6: 40,589,649 (GRCm39)	V199A	possibly damaging	Het
Trim43b	T	C	9: 88,967,541 (GRCm39)	Y365C	possibly damaging	Het
Ubd	T	C	17: 37,506,573 (GRCm39)	L153P	probably damaging	Het
Xpnpep2	A	C	X: 47,215,786 (GRCm39)	M513L	probably benign	Het
Zar1l	C	T	5: 150,441,210 (GRCm39)	G139R	probably damaging	Het
Zc3hav1	T	G	6: 38,309,926 (GRCm39)	T299P	probably damaging	Het
Zfp236	C	A	18: 82,676,120 (GRCm39)		probably benign	Het

Other mutations in Grb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Grb10	APN	11	11,895,599 (GRCm39)	missense	probably damaging	1.00
IGL01450:Grb10	APN	11	11,920,432 (GRCm39)	missense	probably damaging	1.00
IGL01872:Grb10	APN	11	11,920,547 (GRCm39)	missense	probably damaging	0.99
IGL02164:Grb10	APN	11	11,893,962 (GRCm39)	missense	probably damaging	1.00
IGL02508:Grb10	APN	11	11,896,767 (GRCm39)	missense	probably damaging	1.00
IGL03275:Grb10	APN	11	11,883,591 (GRCm39)	missense	possibly damaging	0.46
virginia	UTSW	11	11,883,551 (GRCm39)	missense	probably damaging	1.00
R0042:Grb10	UTSW	11	11,886,798 (GRCm39)	missense	probably damaging	1.00
R0042:Grb10	UTSW	11	11,886,798 (GRCm39)	missense	probably damaging	1.00
R0089:Grb10	UTSW	11	11,884,192 (GRCm39)	splice site	probably benign
R0196:Grb10	UTSW	11	11,895,583 (GRCm39)	missense	probably damaging	1.00
R0419:Grb10	UTSW	11	11,884,207 (GRCm39)	missense	possibly damaging	0.87
R0645:Grb10	UTSW	11	11,886,755 (GRCm39)	missense	probably damaging	0.98
R1473:Grb10	UTSW	11	11,884,249 (GRCm39)	missense	probably damaging	1.00
R1848:Grb10	UTSW	11	11,896,029 (GRCm39)	missense	possibly damaging	0.78
R2025:Grb10	UTSW	11	11,920,576 (GRCm39)	nonsense	probably null
R4455:Grb10	UTSW	11	11,917,665 (GRCm39)	missense	possibly damaging	0.93
R4857:Grb10	UTSW	11	11,901,469 (GRCm39)	unclassified	probably benign
R5289:Grb10	UTSW	11	11,894,924 (GRCm39)	splice site	silent
R5522:Grb10	UTSW	11	11,886,746 (GRCm39)	missense	probably benign	0.05
R5696:Grb10	UTSW	11	11,883,566 (GRCm39)	missense	probably benign	0.23
R6119:Grb10	UTSW	11	11,883,551 (GRCm39)	missense	probably damaging	1.00
R6163:Grb10	UTSW	11	11,893,932 (GRCm39)	nonsense	probably null
R6267:Grb10	UTSW	11	11,920,639 (GRCm39)	start gained	probably benign
R6328:Grb10	UTSW	11	11,887,905 (GRCm39)	missense	probably damaging	1.00
R6741:Grb10	UTSW	11	11,886,717 (GRCm39)	critical splice donor site	probably null
R7610:Grb10	UTSW	11	11,893,955 (GRCm39)	missense	probably benign	0.33
R7641:Grb10	UTSW	11	11,883,492 (GRCm39)	missense	possibly damaging	0.84
R8209:Grb10	UTSW	11	11,901,533 (GRCm39)	missense	probably damaging	0.99
R8226:Grb10	UTSW	11	11,901,533 (GRCm39)	missense	probably damaging	0.99
R8916:Grb10	UTSW	11	11,901,599 (GRCm39)	missense	probably benign	0.28
R9546:Grb10	UTSW	11	11,893,919 (GRCm39)	missense	probably benign	0.00
R9547:Grb10	UTSW	11	11,893,919 (GRCm39)	missense	probably benign	0.00
R9559:Grb10	UTSW	11	11,895,535 (GRCm39)	missense	probably damaging	1.00
Z1176:Grb10	UTSW	11	11,894,845 (GRCm39)	missense	possibly damaging	0.59

Posted On

2015-04-16