Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Gramd1b'

550995

Institutional Source

Beutler Lab

Gene Symbol

Gramd1b

Ensembl Gene

ENSMUSG00000040111

Gene Name

GRAM domain containing 1B

Synonyms

A930008A22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40293233-40531383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40401606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 22 (Y22C)

Ref Sequence

ENSEMBL: ENSMUSP00000148499 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045682

SMART Domains

Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111

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: ENSMUST00000119373

SMART Domains

Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111

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: ENSMUST00000165104

SMART Domains

Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111

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

unknown
Transcript: ENSMUST00000211853
AA Change: Y22C

Meta Mutation Damage Score

0.0612

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in Gramd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gramd1b	APN	9	40310041	missense	probably damaging	0.97
IGL00575:Gramd1b	APN	9	40327411	splice site	probably benign
IGL01596:Gramd1b	APN	9	40303513	missense	probably damaging	1.00
IGL01810:Gramd1b	APN	9	40315773	missense	probably damaging	1.00
IGL02148:Gramd1b	APN	9	40315764	missense	probably damaging	1.00
IGL02206:Gramd1b	APN	9	40300032	missense	probably benign	0.01
IGL02626:Gramd1b	APN	9	40298010	missense	probably damaging	0.98
IGL02723:Gramd1b	APN	9	40306831	missense	probably damaging	0.97
IGL03192:Gramd1b	APN	9	40306801	missense	probably damaging	1.00
I2288:Gramd1b	UTSW	9	40306805	missense	probably damaging	0.97
PIT4283001:Gramd1b	UTSW	9	40455456	missense	probably benign	0.01
R0038:Gramd1b	UTSW	9	40317526	missense	probably damaging	1.00
R0038:Gramd1b	UTSW	9	40317526	missense	probably damaging	1.00
R0600:Gramd1b	UTSW	9	40308355	missense	probably damaging	1.00
R1290:Gramd1b	UTSW	9	40316821	splice site	probably null
R1637:Gramd1b	UTSW	9	40304538	splice site	probably null
R1782:Gramd1b	UTSW	9	40413337	missense	probably damaging	1.00
R1928:Gramd1b	UTSW	9	40306469	missense	possibly damaging	0.70
R3620:Gramd1b	UTSW	9	40455546	missense	probably benign	0.01
R3943:Gramd1b	UTSW	9	40531044	start codon destroyed	probably null
R4613:Gramd1b	UTSW	9	40307993	missense	probably damaging	1.00
R4740:Gramd1b	UTSW	9	40315832	splice site	probably null
R4808:Gramd1b	UTSW	9	40304349	missense	possibly damaging	0.58
R5407:Gramd1b	UTSW	9	40455655	missense	probably damaging	0.97
R6209:Gramd1b	UTSW	9	40333650	missense	probably damaging	1.00
R6797:Gramd1b	UTSW	9	40308406	missense	probably benign	0.34
R7185:Gramd1b	UTSW	9	40333563	missense	probably benign	0.03
R7352:Gramd1b	UTSW	9	40307993	missense	probably damaging	1.00
R7409:Gramd1b	UTSW	9	40327431	missense	probably damaging	1.00
R7561:Gramd1b	UTSW	9	40401615	missense	unknown
R8272:Gramd1b	UTSW	9	40304524	missense	probably benign	0.00
R8474:Gramd1b	UTSW	9	40375911	critical splice donor site	probably null
R8690:Gramd1b	UTSW	9	40304378	missense	probably damaging	1.00
R8818:Gramd1b	UTSW	9	40304484	missense	probably benign	0.01
R9493:Gramd1b	UTSW	9	40306393	missense	probably damaging	1.00
R9648:Gramd1b	UTSW	9	40333497	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCATCAGCTGTCCACCTCAG -3'
(R):5'- AGTTCACTGTCTAGCGCTGG -3'

Sequencing Primer
(F):5'- GCCTCCTGCAACACATCTG -3'
(R):5'- TGTCTAGCGCTGGGGCAG -3'

Posted On

2019-05-15