Mutagenetix > Incidental Mutation

Incidental Mutation 'R5091:Gimap8'

387748

Institutional Source

Beutler Lab

Gene Symbol

Gimap8

Ensembl Gene

ENSMUSG00000064262

Gene Name

GTPase, IMAP family member 8

Synonyms

IAN9, LOC243374

MMRRC Submission

042680-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48647234-48660875 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48656647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 467 (P467S)

Ref Sequence

ENSEMBL: ENSMUSP00000145255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078223] [ENSMUST00000203083] [ENSMUST00000203509]

AlphaFold

Q75N62

Predicted Effect

unknown
Transcript: ENSMUST00000078223
AA Change: A304V

SMART Domains

Protein: ENSMUSP00000077350
Gene: ENSMUSG00000064262
AA Change: A304V

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:AIG1	49	251	1.5e-55	PFAM
Pfam:MMR_HSR1	50	173	4.7e-7	PFAM
Pfam:AIG1	285	473	7.7e-51	PFAM
Pfam:AIG1	476	682	4.2e-67	PFAM
Pfam:MMR_HSR1	477	603	3e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203083
AA Change: P467S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: P467S

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:AIG1	49	251	1.5e-55	PFAM
Pfam:MMR_HSR1	50	173	4.7e-7	PFAM
Pfam:AIG1	285	473	7.7e-51	PFAM
Pfam:AIG1	476	682	4.2e-67	PFAM
Pfam:MMR_HSR1	477	603	3e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203509
AA Change: P467S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: P467S

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:AIG1	49	251	1.5e-55	PFAM
Pfam:MMR_HSR1	50	173	4.7e-7	PFAM
Pfam:AIG1	285	473	7.7e-51	PFAM
Pfam:AIG1	476	682	4.2e-67	PFAM
Pfam:MMR_HSR1	477	603	3e-7	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

MGI Phenotype

FUNCTION: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein is larger than the other gene family members and includes three AIG1 domains (corresponding to the AIG1 protein from Arabidopsis thaliana) whereas other family members have one AIG1 domain. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,553,244	S174P	probably damaging	Het
4931414P19Rik	T	C	14: 54,585,711	E343G	probably damaging	Het
9530053A07Rik	A	C	7: 28,156,958	I2057L	probably benign	Het
Abca14	T	C	7: 120,252,274	V825A	probably damaging	Het
Abca8b	G	T	11: 109,936,384	T1466K	possibly damaging	Het
Adcy8	A	G	15: 64,806,704	S467P	probably damaging	Het
Agbl4	T	C	4: 111,119,040	V198A	possibly damaging	Het
Agpat4	A	G	17: 12,198,812	K80R	probably benign	Het
Akap8	T	C	17: 32,316,234	T269A	probably benign	Het
Ankhd1	A	T	18: 36,625,027	I925F	possibly damaging	Het
Aste1	A	G	9: 105,405,004	Y57C	probably damaging	Het
Axdnd1	A	G	1: 156,420,410	S7P	possibly damaging	Het
BC051019	T	A	7: 109,720,582	R91S	probably null	Het
Cavin2	C	A	1: 51,301,239	N358K	probably benign	Het
Cd2	T	C	3: 101,283,039	N196S	probably benign	Het
Clca3a1	C	T	3: 144,730,722	V867I	probably benign	Het
Col6a4	T	A	9: 106,075,063	K545N	probably damaging	Het
Cps1	T	A	1: 67,229,520		probably null	Het
Cyp2c65	A	T	19: 39,087,565		probably null	Het
Dcaf6	T	C	1: 165,330,003	D856G	possibly damaging	Het
E130309D02Rik	C	T	5: 143,307,688	E345K	possibly damaging	Het
Epcam	T	C	17: 87,642,152	I181T	probably damaging	Het
Esrp2	A	G	8: 106,132,429	S562P	probably damaging	Het
Ffar4	A	G	19: 38,097,179	D18G	probably benign	Het
Gen1	C	T	12: 11,246,346	V337I	probably damaging	Het
Gnl3	T	A	14: 31,016,846	H82L	possibly damaging	Het
Grid2	T	C	6: 64,076,878	S354P	probably benign	Het
Ighmbp2	T	A	19: 3,265,084	T779S	possibly damaging	Het
Kif19a	C	A	11: 114,783,097	T348N	probably damaging	Het
Lrrc15	T	A	16: 30,273,354	N389I	probably damaging	Het
Mrps26	A	G	2: 130,563,966	Y63C	probably damaging	Het
Myd88	C	A	9: 119,337,823	V223F	possibly damaging	Het
Nox4	T	A	7: 87,376,242	W526R	probably damaging	Het
Nrg2	A	T	18: 36,052,785	N300K	probably damaging	Het
Nsmf	T	C	2: 25,060,452		probably benign	Het
Patl2	A	C	2: 122,123,802	H429Q	probably benign	Het
Pcdhb12	A	T	18: 37,435,854	K18*	probably null	Het
Peg10	T	A	6: 4,754,511	D97E	probably benign	Het
Runx1t1	C	T	4: 13,846,830	Q205*	probably null	Het
Selenon	T	C	4: 134,547,973	K138R	probably damaging	Het
Slc13a3	T	C	2: 165,420,080	E369G	probably benign	Het
Sorcs1	A	G	19: 50,259,752		probably null	Het
Sptbn4	A	T	7: 27,369,391	M499K	probably damaging	Het
Sra1	A	T	18: 36,669,959		probably benign	Het
Stra6	T	C	9: 58,141,146	L174P	probably damaging	Het
Syngr1	T	C	15: 80,115,885	Y66H	probably damaging	Het
Synpo	G	T	18: 60,602,759	S466*	probably null	Het
Tenm3	T	A	8: 48,342,308	M595L	probably benign	Het
Tnks	T	C	8: 34,841,809	T1099A	probably benign	Het
Tram1l1	G	T	3: 124,321,751	V187F	possibly damaging	Het
Trappc11	T	C	8: 47,512,604	E529G	probably benign	Het
Usp17la	T	C	7: 104,860,932	V248A	probably damaging	Het
Virma	T	C	4: 11,519,392	Y880H	probably benign	Het
Vmn1r214	C	T	13: 23,035,401	T355I	possibly damaging	Het
Vmn2r7	T	C	3: 64,690,784	K784R	possibly damaging	Het
Wrap53	C	T	11: 69,562,447	W389*	probably null	Het
Zfp748	A	G	13: 67,541,519	S541P	probably damaging	Het

Other mutations in Gimap8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Gimap8	APN	6	48658767	missense	probably damaging	1.00
IGL02830:Gimap8	APN	6	48656305	missense	probably benign	0.01
Kangchenjunga	UTSW	6	48659163	missense	probably damaging	1.00
lhotse	UTSW	6	48658954	missense	possibly damaging	0.74
Makalu	UTSW	6	48656188	missense	probably damaging	1.00
R1224:Gimap8	UTSW	6	48650695	missense	probably benign	0.04
R1386:Gimap8	UTSW	6	48656653	missense	probably benign	0.04
R1503:Gimap8	UTSW	6	48647529	critical splice donor site	probably null
R1560:Gimap8	UTSW	6	48656134	missense	probably damaging	1.00
R1681:Gimap8	UTSW	6	48656411	missense	probably benign	0.01
R2012:Gimap8	UTSW	6	48656353	missense	probably damaging	0.98
R2094:Gimap8	UTSW	6	48650568	missense	probably benign	0.00
R2937:Gimap8	UTSW	6	48658796	missense	possibly damaging	0.55
R2938:Gimap8	UTSW	6	48658796	missense	possibly damaging	0.55
R3147:Gimap8	UTSW	6	48650506	missense	probably damaging	1.00
R4276:Gimap8	UTSW	6	48659083	missense	probably benign	0.35
R4281:Gimap8	UTSW	6	48658820	missense	probably benign	0.37
R4294:Gimap8	UTSW	6	48658957	missense	probably benign	0.00
R4713:Gimap8	UTSW	6	48658986	missense	probably benign	0.23
R4750:Gimap8	UTSW	6	48650427	missense	probably benign	0.01
R4896:Gimap8	UTSW	6	48659347	missense	possibly damaging	0.85
R4936:Gimap8	UTSW	6	48656134	missense	probably damaging	1.00
R5041:Gimap8	UTSW	6	48659163	missense	probably damaging	1.00
R5215:Gimap8	UTSW	6	48651083	missense	possibly damaging	0.88
R5360:Gimap8	UTSW	6	48656302	missense	probably damaging	1.00
R6119:Gimap8	UTSW	6	48658954	missense	possibly damaging	0.74
R6221:Gimap8	UTSW	6	48658942	missense	probably damaging	1.00
R6450:Gimap8	UTSW	6	48656451	missense	probably benign	0.03
R7137:Gimap8	UTSW	6	48650253	missense	probably damaging	0.99
R7154:Gimap8	UTSW	6	48656188	missense	probably damaging	1.00
R7666:Gimap8	UTSW	6	48659155	missense	probably damaging	1.00
R7686:Gimap8	UTSW	6	48656072	missense	probably damaging	0.99
R7912:Gimap8	UTSW	6	48651065	missense	probably benign	0.09
R8467:Gimap8	UTSW	6	48650335	missense	probably benign	0.02
R8773:Gimap8	UTSW	6	48656611	missense	probably benign	0.01
R9202:Gimap8	UTSW	6	48656469	missense	probably benign	0.00
R9773:Gimap8	UTSW	6	48656634	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTTGAGGATCAGGCTCTAGATAAGG -3'
(R):5'- GAGGCTCTGTCCTTGTCATG -3'

Sequencing Primer
(F):5'- TCAGGCTCTAGATAAGGTTATAAAGG -3'
(R):5'- CTGGGGATCAAACTCAGATCTTACG -3'

Posted On

2016-06-06