Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02626:Gramd1b'

301088

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gramd1b

Ensembl Gene

ENSMUSG00000040111

Gene Name

GRAM domain containing 1B

Synonyms

A930008A22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL02626

Quality Score

Status

Chromosome

Chromosomal Location

40204529-40442679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40209306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 873 (K873E)

Ref Sequence

ENSEMBL: ENSMUSP00000130050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000118159] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000165104] [ENSMUST00000211853] [ENSMUST00000216821]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045682
AA Change: K873E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: K873E

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
Pfam:DUF4782	519	667	1.6e-38	PFAM
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118159
AA Change: K693E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: K693E

Domain	Start	End	E-Value	Type
low complexity region	19	42	N/A	INTRINSIC
GRAM	56	123	1.54e-28	SMART
low complexity region	191	201	N/A	INTRINSIC
low complexity region	512	526	N/A	INTRINSIC
transmembrane domain	584	606	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119373
AA Change: K756E

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: K756E

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
GRAM	126	193	1.54e-28	SMART
low complexity region	261	271	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
transmembrane domain	654	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121357
AA Change: K729E

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: K729E

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
GRAM	92	159	1.54e-28	SMART
low complexity region	227	237	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
transmembrane domain	620	642	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137454
AA Change: K483E

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: K483E

Domain	Start	End	E-Value	Type
Pfam:DUF4782	130	278	2.3e-39	PFAM
low complexity region	307	321	N/A	INTRINSIC
transmembrane domain	379	401	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155265

Predicted Effect

probably damaging
Transcript: ENSMUST00000165104
AA Change: K873E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: K873E

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211853
AA Change: K762E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216821
AA Change: K729E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

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
Grb10	T	C	11: 11,895,503 (GRCm39)	T329A	probably benign	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 Gramd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gramd1b	APN	9	40,221,337 (GRCm39)	missense	probably damaging	0.97
IGL00575:Gramd1b	APN	9	40,238,707 (GRCm39)	splice site	probably benign
IGL01596:Gramd1b	APN	9	40,214,809 (GRCm39)	missense	probably damaging	1.00
IGL01810:Gramd1b	APN	9	40,227,069 (GRCm39)	missense	probably damaging	1.00
IGL02148:Gramd1b	APN	9	40,227,060 (GRCm39)	missense	probably damaging	1.00
IGL02206:Gramd1b	APN	9	40,211,328 (GRCm39)	missense	probably benign	0.01
IGL02723:Gramd1b	APN	9	40,218,127 (GRCm39)	missense	probably damaging	0.97
IGL03192:Gramd1b	APN	9	40,218,097 (GRCm39)	missense	probably damaging	1.00
I2288:Gramd1b	UTSW	9	40,218,101 (GRCm39)	missense	probably damaging	0.97
PIT4283001:Gramd1b	UTSW	9	40,366,752 (GRCm39)	missense	probably benign	0.01
R0038:Gramd1b	UTSW	9	40,228,822 (GRCm39)	missense	probably damaging	1.00
R0038:Gramd1b	UTSW	9	40,228,822 (GRCm39)	missense	probably damaging	1.00
R0600:Gramd1b	UTSW	9	40,219,651 (GRCm39)	missense	probably damaging	1.00
R1290:Gramd1b	UTSW	9	40,228,117 (GRCm39)	splice site	probably null
R1637:Gramd1b	UTSW	9	40,215,834 (GRCm39)	splice site	probably null
R1782:Gramd1b	UTSW	9	40,324,633 (GRCm39)	missense	probably damaging	1.00
R1928:Gramd1b	UTSW	9	40,217,765 (GRCm39)	missense	possibly damaging	0.70
R3620:Gramd1b	UTSW	9	40,366,842 (GRCm39)	missense	probably benign	0.01
R3943:Gramd1b	UTSW	9	40,442,340 (GRCm39)	start codon destroyed	probably null
R4613:Gramd1b	UTSW	9	40,219,289 (GRCm39)	missense	probably damaging	1.00
R4740:Gramd1b	UTSW	9	40,227,128 (GRCm39)	splice site	probably null
R4808:Gramd1b	UTSW	9	40,215,645 (GRCm39)	missense	possibly damaging	0.58
R5407:Gramd1b	UTSW	9	40,366,951 (GRCm39)	missense	probably damaging	0.97
R6209:Gramd1b	UTSW	9	40,244,946 (GRCm39)	missense	probably damaging	1.00
R6797:Gramd1b	UTSW	9	40,219,702 (GRCm39)	missense	probably benign	0.34
R7103:Gramd1b	UTSW	9	40,312,902 (GRCm39)	missense	unknown
R7185:Gramd1b	UTSW	9	40,244,859 (GRCm39)	missense	probably benign	0.03
R7352:Gramd1b	UTSW	9	40,219,289 (GRCm39)	missense	probably damaging	1.00
R7409:Gramd1b	UTSW	9	40,238,727 (GRCm39)	missense	probably damaging	1.00
R7561:Gramd1b	UTSW	9	40,312,911 (GRCm39)	missense	unknown
R8272:Gramd1b	UTSW	9	40,215,820 (GRCm39)	missense	probably benign	0.00
R8474:Gramd1b	UTSW	9	40,287,207 (GRCm39)	critical splice donor site	probably null
R8690:Gramd1b	UTSW	9	40,215,674 (GRCm39)	missense	probably damaging	1.00
R8818:Gramd1b	UTSW	9	40,215,780 (GRCm39)	missense	probably benign	0.01
R9493:Gramd1b	UTSW	9	40,217,689 (GRCm39)	missense	probably damaging	1.00
R9648:Gramd1b	UTSW	9	40,244,793 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16