Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Gramd1a'

537952

Institutional Source

Beutler Lab

Gene Symbol

Gramd1a

Ensembl Gene

ENSMUSG00000001248

Gene Name

GRAM domain containing 1A

Synonyms

1300003M23Rik, D7Bwg0611e

MMRRC Submission

044946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30829552-30855321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30833929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 499 (I499V)

Ref Sequence

ENSEMBL: ENSMUSP00000001280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000186634]

AlphaFold

Q8VEF1

Predicted Effect

probably benign
Transcript: ENSMUST00000001280
AA Change: I499V

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: I499V

Domain	Start	End	E-Value	Type
low complexity region	8	39	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
GRAM	93	160	2.54e-29	SMART
low complexity region	342	360	N/A	INTRINSIC
Pfam:DUF4782	372	520	7.3e-37	PFAM
low complexity region	531	542	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
transmembrane domain	606	628	N/A	INTRINSIC
low complexity region	707	719	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085636

SMART Domains

Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	8	39	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
GRAM	93	160	2.54e-29	SMART
low complexity region	342	360	N/A	INTRINSIC
Pfam:DUF4782	372	500	1.1e-28	PFAM
low complexity region	514	528	N/A	INTRINSIC
transmembrane domain	572	594	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186634

SMART Domains

Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	8	39	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
GRAM	93	160	8.9e-32	SMART
low complexity region	342	360	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206233

Predicted Effect

probably benign
Transcript: ENSMUST00000206432

Predicted Effect

probably benign
Transcript: ENSMUST00000220635

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Aqp9	T	A	9: 71,019,498 (GRCm39)	M321L	probably benign	Het
Avil	G	A	10: 126,849,431 (GRCm39)	D576N	probably benign	Het
Bbs1	C	T	19: 4,953,880 (GRCm39)	M94I	possibly damaging	Het
Bms1	A	G	6: 118,393,455 (GRCm39)	V139A	probably benign	Het
Bscl2	A	T	19: 8,818,745 (GRCm39)	M57L	probably damaging	Het
C2cd5	A	G	6: 142,975,364 (GRCm39)	I794T	possibly damaging	Het
Cacna1s	C	T	1: 136,012,175 (GRCm39)	T539I	possibly damaging	Het
Cand1	T	C	10: 119,045,935 (GRCm39)	K990R	probably benign	Het
Capn7	A	G	14: 31,076,130 (GRCm39)	I311V	possibly damaging	Het
Cd180	A	G	13: 102,839,239 (GRCm39)	N41D	probably benign	Het
Cdin1	T	C	2: 115,607,471 (GRCm39)	F275L	possibly damaging	Het
Celsr1	G	A	15: 85,823,395 (GRCm39)	T1671I	probably benign	Het
Cep135	A	T	5: 76,780,062 (GRCm39)	Q798L	probably damaging	Het
Cfap65	T	C	1: 74,971,180 (GRCm39)	D46G	probably benign	Het
Cracd	A	T	5: 77,006,056 (GRCm39)	T806S	unknown	Het
Ddx46	G	T	13: 55,787,748 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,230,948 (GRCm39)	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,929,525 (GRCm39)	E1402G	probably damaging	Het
Dock9	A	G	14: 121,784,008 (GRCm39)	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,236,323 (GRCm39)	D50G	probably benign	Het
Evi5	G	T	5: 107,990,027 (GRCm39)	T64K	possibly damaging	Het
Frem3	A	C	8: 81,338,660 (GRCm39)	T318P	probably damaging	Het
Gpx1	A	G	9: 108,217,139 (GRCm39)	D81G	possibly damaging	Het
H4c12	A	T	13: 21,934,375 (GRCm39)	F101I	probably damaging	Het
Herc2	T	A	7: 55,758,526 (GRCm39)	D804E	probably damaging	Het
Hk1	T	C	10: 62,107,437 (GRCm39)	E846G	probably damaging	Het
Iars2	G	A	1: 185,061,342 (GRCm39)	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278 (GRCm39)	T10M	possibly damaging	Het
Ism2	A	T	12: 87,326,975 (GRCm39)	D321E	probably benign	Het
Itpr1	T	C	6: 108,448,152 (GRCm39)	S231P	possibly damaging	Het
Kif17	A	T	4: 138,005,710 (GRCm39)		probably null	Het
Lvrn	A	G	18: 47,023,947 (GRCm39)	I765V	possibly damaging	Het
Map4k4	T	A	1: 40,015,882 (GRCm39)	C108S	probably damaging	Het
Mapk13	G	T	17: 28,996,535 (GRCm39)		probably null	Het
Mapkapk2	T	A	1: 130,985,740 (GRCm39)	K95*	probably null	Het
Mau2	A	T	8: 70,491,947 (GRCm39)		probably null	Het
Mex3a	A	G	3: 88,444,084 (GRCm39)	T387A	probably benign	Het
Myo5a	T	C	9: 75,061,165 (GRCm39)		probably null	Het
Ncbp3	A	T	11: 72,964,300 (GRCm39)	M417L	possibly damaging	Het
Nod2	A	C	8: 89,397,086 (GRCm39)	E810A	possibly damaging	Het
Nol3	A	T	8: 106,006,207 (GRCm39)	E152V	probably damaging	Het
Obox6	T	C	7: 15,567,664 (GRCm39)	E261G	possibly damaging	Het
Or2h1	A	T	17: 37,404,058 (GRCm39)	L236*	probably null	Het
Or8b12b	A	C	9: 37,684,348 (GRCm39)	Y131S	possibly damaging	Het
P3h2	T	C	16: 25,924,034 (GRCm39)	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,487,222 (GRCm39)	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,097,137 (GRCm39)	S250L	possibly damaging	Het
Rab38	A	G	7: 88,099,917 (GRCm39)	D144G	possibly damaging	Het
Septin1	T	C	7: 126,815,894 (GRCm39)	M176V	probably benign	Het
Spata22	C	T	11: 73,236,759 (GRCm39)	T355M	probably benign	Het
Tango6	A	G	8: 107,468,706 (GRCm39)	N734S	probably benign	Het
Tbc1d17	C	A	7: 44,493,738 (GRCm39)	R295L	probably damaging	Het
Thsd7a	G	T	6: 12,504,074 (GRCm39)	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnnt1	T	C	7: 4,510,406 (GRCm39)	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,131,279 (GRCm39)	M250L	probably benign	Het
Urb1	T	A	16: 90,578,994 (GRCm39)	D689V	possibly damaging	Het
Usp28	T	A	9: 48,911,730 (GRCm39)		probably null	Het
Vldlr	G	A	19: 27,225,370 (GRCm39)	D816N	probably damaging	Het
Vmn1r257	T	A	7: 22,391,142 (GRCm39)	M201L	probably benign	Het
Wdr1	A	G	5: 38,687,374 (GRCm39)	V219A	probably damaging	Het
Xndc1	T	C	7: 101,722,476 (GRCm39)	V47A	possibly damaging	Het
Zfp366	C	T	13: 99,365,015 (GRCm39)	P59S	possibly damaging	Het
Zfp366	A	G	13: 99,382,685 (GRCm39)	E616G	possibly damaging	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	Het

Other mutations in Gramd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Gramd1a	APN	7	30,841,993 (GRCm39)	missense	probably damaging	0.99
IGL01627:Gramd1a	APN	7	30,839,221 (GRCm39)	missense	probably damaging	0.99
IGL01684:Gramd1a	APN	7	30,838,330 (GRCm39)	missense	possibly damaging	0.67
IGL01793:Gramd1a	APN	7	30,833,838 (GRCm39)	critical splice donor site	probably null
IGL01986:Gramd1a	APN	7	30,833,434 (GRCm39)	missense	possibly damaging	0.58
IGL02029:Gramd1a	APN	7	30,832,249 (GRCm39)	missense	possibly damaging	0.95
IGL02060:Gramd1a	APN	7	30,829,996 (GRCm39)	nonsense	probably null
IGL02569:Gramd1a	APN	7	30,829,932 (GRCm39)	unclassified	probably benign
IGL02606:Gramd1a	APN	7	30,833,940 (GRCm39)	missense	probably damaging	1.00
IGL02715:Gramd1a	APN	7	30,835,279 (GRCm39)	missense	probably damaging	1.00
IGL03253:Gramd1a	APN	7	30,839,271 (GRCm39)	nonsense	probably null
PIT4377001:Gramd1a	UTSW	7	30,843,095 (GRCm39)	missense	possibly damaging	0.95
PIT4618001:Gramd1a	UTSW	7	30,832,021 (GRCm39)	missense	probably benign	0.00
R0179:Gramd1a	UTSW	7	30,841,843 (GRCm39)	missense	probably damaging	1.00
R0329:Gramd1a	UTSW	7	30,837,679 (GRCm39)	missense	possibly damaging	0.93
R0330:Gramd1a	UTSW	7	30,837,679 (GRCm39)	missense	possibly damaging	0.93
R0628:Gramd1a	UTSW	7	30,842,049 (GRCm39)	missense	probably damaging	1.00
R0834:Gramd1a	UTSW	7	30,837,589 (GRCm39)	missense	possibly damaging	0.94
R1421:Gramd1a	UTSW	7	30,842,291 (GRCm39)	missense	probably damaging	0.98
R1430:Gramd1a	UTSW	7	30,832,211 (GRCm39)	missense	probably damaging	0.97
R1682:Gramd1a	UTSW	7	30,842,325 (GRCm39)	splice site	probably null
R1703:Gramd1a	UTSW	7	30,838,959 (GRCm39)	missense	possibly damaging	0.96
R1822:Gramd1a	UTSW	7	30,841,998 (GRCm39)	missense	probably damaging	1.00
R2308:Gramd1a	UTSW	7	30,839,215 (GRCm39)	missense	probably damaging	0.97
R3861:Gramd1a	UTSW	7	30,835,365 (GRCm39)	missense	possibly damaging	0.90
R4184:Gramd1a	UTSW	7	30,831,940 (GRCm39)	intron	probably benign
R4908:Gramd1a	UTSW	7	30,838,292 (GRCm39)	missense	probably benign	0.27
R4978:Gramd1a	UTSW	7	30,832,213 (GRCm39)	missense	possibly damaging	0.74
R5723:Gramd1a	UTSW	7	30,833,908 (GRCm39)	missense	probably damaging	1.00
R5927:Gramd1a	UTSW	7	30,839,246 (GRCm39)	missense	probably benign	0.33
R6466:Gramd1a	UTSW	7	30,843,221 (GRCm39)	missense	probably benign
R7034:Gramd1a	UTSW	7	30,832,181 (GRCm39)	critical splice donor site	probably null
R7036:Gramd1a	UTSW	7	30,832,181 (GRCm39)	critical splice donor site	probably null
R7867:Gramd1a	UTSW	7	30,842,992 (GRCm39)	missense	probably damaging	1.00
R8729:Gramd1a	UTSW	7	30,843,248 (GRCm39)	missense	possibly damaging	0.53
R8783:Gramd1a	UTSW	7	30,832,220 (GRCm39)	missense	possibly damaging	0.50
R9147:Gramd1a	UTSW	7	30,837,606 (GRCm39)	unclassified	probably benign
R9485:Gramd1a	UTSW	7	30,829,963 (GRCm39)	missense	unknown
Z1186:Gramd1a	UTSW	7	30,843,198 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GACAGCTTTTCTGCCTTGGC -3'
(R):5'- CCCAAATCAATGGCAGTTATAGG -3'

Sequencing Primer
(F):5'- CGAGTTCTCGATCTGAGGGAC -3'
(R):5'- GGAGACCCCTAAAGTGTGATTTAAG -3'

Posted On

2018-10-18