Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Gramd1b'

11132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gramd1b

Ensembl Gene

ENSMUSG00000040111

Gene Name

GRAM domain containing 1B

Synonyms

A930008A22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

40293233-40531383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40310041 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 280 (I280F)

Ref Sequence

ENSEMBL: ENSMUSP00000148499 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045682
AA Change: I395F

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: I395F

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: I211F

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: I211F

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: I278F

SMART Domains

Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: I278F

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

possibly damaging
Transcript: ENSMUST00000121357
AA Change: I247F

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: I247F

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: I5F

SMART Domains

Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: I5F

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 benign
Transcript: ENSMUST00000165104
AA Change: I395F

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: I395F

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: I280F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216821
AA Change: I251F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 130,011,872	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,352,354	M291T	probably benign	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,801,152	D251E	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,001,741		probably benign	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Smcr8	T	A	11: 60,778,632		probably null	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,954,221	E8G	probably benign	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably damaging	Het

Other mutations in Gramd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7103:Gramd1b	UTSW	9	40401606	missense	unknown
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

Posted On

2012-12-06