Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Gramd1b'

55325

Institutional Source

Beutler Lab

Gene Symbol

Gramd1b

Ensembl Gene

ENSMUSG00000040111

Gene Name

GRAM domain containing 1B

Synonyms

A930008A22Rik

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R0600 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

40204529-40442679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40219651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 341 (D341G)

Ref Sequence

ENSEMBL: ENSMUSP00000148890 (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: D485G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: D485G

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

probably benign
Transcript: ENSMUST00000118159
AA Change: D301G

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: D301G

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

unknown
Transcript: ENSMUST00000119373
AA Change: D368G

SMART Domains

Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: D368G

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 damaging
Transcript: ENSMUST00000121357
AA Change: D337G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: D337G

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

unknown
Transcript: ENSMUST00000137454
AA Change: D95G

SMART Domains

Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: D95G

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: D485G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: D485G

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

probably damaging
Transcript: ENSMUST00000211853
AA Change: D370G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216821
AA Change: D341G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3095

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,959,389 (GRCm39)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,270,174 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,591,033 (GRCm39)		probably null	Het
Ang5	T	C	14: 44,200,206 (GRCm39)	V90A	probably benign	Het
Ano9	C	T	7: 140,684,623 (GRCm39)	G442R	probably damaging	Het
Apaf1	G	A	10: 90,895,914 (GRCm39)	T386I	probably damaging	Het
Apob	C	A	12: 8,056,440 (GRCm39)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,241,824 (GRCm39)	D791E	probably benign	Het
Avl9	T	C	6: 56,713,891 (GRCm39)	V383A	probably benign	Het
Btbd1	A	C	7: 81,465,754 (GRCm39)	D197E	probably damaging	Het
Camta2	T	C	11: 70,564,785 (GRCm39)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,667,233 (GRCm39)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,313,811 (GRCm39)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,091,249 (GRCm39)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,769,152 (GRCm39)	V601L	probably benign	Het
Ces2b	G	A	8: 105,562,542 (GRCm39)	G291S	probably benign	Het
Col6a6	C	T	9: 105,638,639 (GRCm39)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,462,541 (GRCm39)	E1G	probably damaging	Het
Dand5	A	T	8: 85,542,921 (GRCm39)	L185Q	probably damaging	Het
Dck	T	C	5: 88,929,080 (GRCm39)	V253A	probably benign	Het
Ddx20	A	G	3: 105,586,396 (GRCm39)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,673,123 (GRCm39)	P799S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,611,157 (GRCm39)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,290,217 (GRCm39)		probably null	Het
Gda	A	T	19: 21,411,667 (GRCm39)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,768,119 (GRCm39)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,736,633 (GRCm39)	L1960Q	probably damaging	Het
Grid2	G	T	6: 63,480,419 (GRCm39)	A78S	probably benign	Het
Hao2	A	T	3: 98,790,876 (GRCm39)		probably benign	Het
Hook3	A	G	8: 26,609,014 (GRCm39)	V10A	probably benign	Het
Kif20a	A	G	18: 34,762,262 (GRCm39)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,403,252 (GRCm39)	D2107G	probably benign	Het
Lrriq3	T	C	3: 154,893,373 (GRCm39)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,225,381 (GRCm39)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,023,358 (GRCm39)	T455K	probably benign	Het
Mkln1	G	T	6: 31,409,862 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm39)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,634,517 (GRCm39)	A79V	probably benign	Het
Mrps35	T	A	6: 146,972,232 (GRCm39)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,427,643 (GRCm39)	F1435L	possibly damaging	Het
Nars2	C	T	7: 96,689,130 (GRCm39)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,953,919 (GRCm39)	I10F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm5	A	T	7: 103,803,076 (GRCm39)	Y462*	probably null	Het
Or13p5	C	T	4: 118,591,986 (GRCm39)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,342,660 (GRCm39)	A21E	probably benign	Het
Or2w3	C	A	11: 58,556,986 (GRCm39)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,079,742 (GRCm39)	E87*	probably null	Het
Or4e1	T	C	14: 52,700,966 (GRCm39)	I167V	probably benign	Het
Or5p70	T	A	7: 107,994,438 (GRCm39)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,496,600 (GRCm39)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,789,111 (GRCm39)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,396,284 (GRCm39)	F85L	probably benign	Het
Otog	A	T	7: 45,900,819 (GRCm39)		probably benign	Het
Pdcd2l	A	T	7: 33,892,232 (GRCm39)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,381,596 (GRCm39)	N213S	probably benign	Het
Pkn3	C	T	2: 29,971,146 (GRCm39)	P238S	probably benign	Het
Pramel32	A	T	4: 88,547,536 (GRCm39)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,574,723 (GRCm39)		probably null	Het
Ptprb	A	T	10: 116,204,712 (GRCm39)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,612,500 (GRCm39)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,532,177 (GRCm39)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,515,064 (GRCm39)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,844,565 (GRCm39)	S436P	probably damaging	Het
Slc27a1	C	T	8: 72,036,808 (GRCm39)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,344,879 (GRCm39)	I162F	probably damaging	Het
Smg1	G	A	7: 117,759,606 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,955,196 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,626,957 (GRCm39)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,626,054 (GRCm39)	F1299I	probably benign	Het
Tet2	A	G	3: 133,173,363 (GRCm39)	M1633T	probably benign	Het
Tet2	T	A	3: 133,173,486 (GRCm39)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm39)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 122,771,039 (GRCm39)	I943N	probably benign	Het
Trib2	A	T	12: 15,844,069 (GRCm39)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,760,917 (GRCm39)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,069,914 (GRCm39)	R250G	probably damaging	Het
Ubr2	T	C	17: 47,278,174 (GRCm39)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,320,660 (GRCm39)	I63F	probably damaging	Het
Ush1c	G	A	7: 45,874,332 (GRCm39)	P171S	probably benign	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,074,253 (GRCm39)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm39)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,898,277 (GRCm39)	F431L	probably benign	Het
Wdr17	A	G	8: 55,114,530 (GRCm39)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,232,690 (GRCm39)		noncoding transcript	Het
Zfp160	G	A	17: 21,247,268 (GRCm39)	R606H	probably benign	Het
Zfp369	C	T	13: 65,444,248 (GRCm39)	R464C	probably damaging	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
IGL02626:Gramd1b	APN	9	40,209,306 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGGAACACACTGAGATCCAGAAC -3'
(R):5'- AACATTAGCCCAGCTCCTGAGCAG -3'

Sequencing Primer
(F):5'- CCAGAACTTGGATTTTTGACTCG -3'
(R):5'- tcccccataccctcccc -3'

Posted On

2013-07-11