Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Gramd1a'

65101

Institutional Source

Beutler Lab

Gene Symbol

Gramd1a

Ensembl Gene

ENSMUSG00000001248

Gene Name

GRAM domain containing 1A

Synonyms

1300003M23Rik, D7Bwg0611e

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R0329 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

30829552-30855321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30837679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 360 (D360G)

Ref Sequence

ENSEMBL: ENSMUSP00000140195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001280] [ENSMUST00000085636] [ENSMUST00000185514] [ENSMUST00000186634] [ENSMUST00000186723] [ENSMUST00000187679]

AlphaFold

Q8VEF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001280
AA Change: D360G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: D360G

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

possibly damaging
Transcript: ENSMUST00000085636
AA Change: D360G

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: D360G

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: ENSMUST00000185514

SMART Domains

Protein: ENSMUSP00000139681
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	8	39	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185985

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186634
AA Change: D360G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
AA Change: D360G

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: ENSMUST00000186723

SMART Domains

Protein: ENSMUSP00000139709
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	89	120	N/A	INTRINSIC
low complexity region	124	138	N/A	INTRINSIC
Pfam:GRAM	174	208	1e-6	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000206432
AA Change: T90A

Predicted Effect

probably benign
Transcript: ENSMUST00000206233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205298

Predicted Effect

probably benign
Transcript: ENSMUST00000202814

Predicted Effect

probably benign
Transcript: ENSMUST00000220635

Predicted Effect

probably benign
Transcript: ENSMUST00000187679

SMART Domains

Protein: ENSMUSP00000140674
Gene: ENSMUSG00000001248

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
GRAM	52	119	8.9e-32	SMART

Meta Mutation Damage Score

0.1166

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,349,430 (GRCm39)	H3668L	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adam28	T	C	14: 68,855,188 (GRCm39)	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,910,070 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,969,416 (GRCm39)		probably benign	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534 (GRCm39)		probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,882,614 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,430,349 (GRCm39)	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,079,135 (GRCm39)	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Crcp	C	A	5: 130,071,083 (GRCm39)	Q61K	possibly damaging	Het
Crppa	C	T	12: 36,431,837 (GRCm39)	A22V	possibly damaging	Het
Dcaf8	T	A	1: 172,014,978 (GRCm39)	D414E	probably benign	Het
Ddx28	T	C	8: 106,736,877 (GRCm39)	T394A	probably benign	Het
Ddx55	T	C	5: 124,697,210 (GRCm39)	F191L	probably benign	Het
Dnaaf1	T	C	8: 120,322,756 (GRCm39)		probably benign	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elf5	A	G	2: 103,260,765 (GRCm39)		probably benign	Het
Emcn	T	A	3: 137,122,575 (GRCm39)		probably benign	Het
Erbb4	T	C	1: 68,337,439 (GRCm39)		probably benign	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Etfdh	T	C	3: 79,517,151 (GRCm39)	I353V	probably benign	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fbxl12	C	T	9: 20,549,776 (GRCm39)	G316D	probably damaging	Het
Gbf1	G	A	19: 46,260,709 (GRCm39)		probably null	Het
Gbp2b	T	G	3: 142,313,937 (GRCm39)	S406A	probably benign	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,531,235 (GRCm39)		probably benign	Het
Hectd4	T	C	5: 121,397,927 (GRCm39)	I285T	probably benign	Het
Hrh4	A	G	18: 13,140,302 (GRCm39)		probably benign	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Hspa13	A	T	16: 75,562,018 (GRCm39)	D60E	probably damaging	Het
Htt	T	A	5: 34,974,478 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,750,783 (GRCm39)		probably null	Het
Kif14	G	C	1: 136,423,764 (GRCm39)		probably benign	Het
Kit	T	G	5: 75,813,489 (GRCm39)	V888G	probably damaging	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrriq4	T	C	3: 30,709,873 (GRCm39)	S406P	probably benign	Het
Man2c1	T	C	9: 57,048,467 (GRCm39)	V777A	probably benign	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,830,960 (GRCm39)	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,737,965 (GRCm39)	F11L	probably benign	Het
Nutf2	T	A	8: 106,602,995 (GRCm39)	S37T	probably damaging	Het
Obscn	T	A	11: 58,931,267 (GRCm39)	I5790F	probably damaging	Het
Obscn	A	T	11: 58,943,332 (GRCm39)	D4833E	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7d9	T	A	9: 20,197,153 (GRCm39)	S61T	possibly damaging	Het
Or8g35	T	C	9: 39,381,852 (GRCm39)	T57A	possibly damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcdhb1	A	G	18: 37,400,077 (GRCm39)	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Pdk1	T	C	2: 71,726,018 (GRCm39)		probably benign	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,019,474 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,830 (GRCm39)		probably benign	Het
Prdm5	T	C	6: 65,839,887 (GRCm39)		probably benign	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,307,702 (GRCm39)	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,078,996 (GRCm39)	R218*	probably null	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stat4	A	G	1: 52,130,029 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,829 (GRCm39)	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tgm4	T	C	9: 122,877,622 (GRCm39)		probably null	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Tmem145	A	G	7: 25,008,099 (GRCm39)		probably benign	Het
Tsacc	A	G	3: 88,190,169 (GRCm39)	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,151,264 (GRCm39)	K290R	probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Usp10	T	A	8: 120,663,296 (GRCm39)	C39*	probably null	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,598,439 (GRCm39)	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Wdr27	A	G	17: 15,154,721 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,998,127 (GRCm39)		probably benign	Het
Zcwpw2	C	A	9: 117,843,123 (GRCm39)		noncoding transcript	Het
Zdhhc1	C	A	8: 106,210,175 (GRCm39)	A81S	probably benign	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	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
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
R6838:Gramd1a	UTSW	7	30,833,929 (GRCm39)	missense	probably benign	0.30
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

Posted On

2013-08-08