Mutagenetix > Incidental Mutations

Incidental Mutation 'R7154:Gimap8'

557140

Institutional Source

Beutler Lab

Gene Symbol

Gimap8

Ensembl Gene

ENSMUSG00000064262

Gene Name

GTPase, IMAP family member 8

Synonyms

IAN9, LOC243374

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48647234-48660875 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48656188 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 314 (F314I)

Ref Sequence

ENSEMBL: ENSMUSP00000145286 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000078223

SMART Domains

Protein: ENSMUSP00000077350
Gene: ENSMUSG00000064262

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

probably damaging
Transcript: ENSMUST00000203083
AA Change: F314I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: F314I

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

probably damaging
Transcript: ENSMUST00000203509
AA Change: F314I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: F314I

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

0.3131

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 70,884,225	F139L	unknown	Het
Adgre1	G	A	17: 57,444,087		probably null	Het
Agap2	A	G	10: 127,091,655	D1135G	probably benign	Het
Akp3	T	C	1: 87,125,224	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,336,704	W71R	probably damaging	Het
Asic3	G	A	5: 24,413,662		probably benign	Het
Asph	A	T	4: 9,630,930	N139K	possibly damaging	Het
Atr	T	A	9: 95,865,045	C127S	probably benign	Het
Auts2	A	T	5: 131,451,893	S255T		Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Cacnb1	A	G	11: 98,005,133	L443P	probably damaging	Het
Cbfa2t3	G	A	8: 122,638,144	Q300*	probably null	Het
Ccer1	A	T	10: 97,694,339	D288V	unknown	Het
Col18a1	G	A	10: 77,072,965	P611S	probably benign	Het
Cpa6	T	A	1: 10,337,469	D281V	possibly damaging	Het
Cyp2e1	A	G	7: 140,770,137	Y245C	probably damaging	Het
Cyp4a31	T	C	4: 115,574,766		probably null	Het
Entpd1	T	C	19: 40,724,986	Y188H	probably damaging	Het
Epb42	T	C	2: 121,033,362	D111G	probably benign	Het
Espl1	A	G	15: 102,324,049	D2064G	probably damaging	Het
Fat3	A	C	9: 15,996,864	V2614G	probably damaging	Het
Fos	A	T	12: 85,474,157	M40L	probably benign	Het
Frmd4b	T	A	6: 97,306,746	E434V	probably damaging	Het
Galnt6	A	T	15: 100,693,464	D586E	probably benign	Het
Gapvd1	T	C	2: 34,725,063	K474R	probably damaging	Het
Gm10696	A	G	3: 94,176,219	I95T	probably benign	Het
Gm11639	T	A	11: 104,699,140		probably null	Het
Gm14393	T	G	2: 175,061,783	K110N	probably damaging	Het
Gm4131	C	A	14: 62,480,933	A75S	probably damaging	Het
Heatr6	G	A	11: 83,777,241	V854I	probably benign	Het
Hic2	T	A	16: 17,258,942	M545K	possibly damaging	Het
Ip6k1	A	G	9: 108,045,662	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,212,157		probably null	Het
Kxd1	T	C	8: 70,515,434	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,502,856	V581G	probably benign	Het
Mex3d	A	T	10: 80,386,750	V224E		Het
Mtx2	T	A	2: 74,876,418	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,447,642		probably null	Het
Myh6	A	G	14: 54,960,307	I458T	probably benign	Het
Ndufs6	A	G	13: 73,320,292	V96A	possibly damaging	Het
Nemf	A	T	12: 69,316,741		probably null	Het
Notch1	T	C	2: 26,459,938	S2397G	probably benign	Het
Olfr1229	A	G	2: 89,282,860	I91T	probably damaging	Het
Olfr522	T	C	7: 140,162,084	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,768,592	E619G	probably benign	Het
Pfkl	T	C	10: 78,001,455	R95G	probably benign	Het
Plat	T	A	8: 22,778,505	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,554,886	H244R	probably damaging	Het
Rapgef3	G	C	15: 97,753,877	H578Q	probably benign	Het
Rnf145	C	A	11: 44,524,995	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,332,423	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,372,714	L581Q	possibly damaging	Het
Sipa1l2	T	C	8: 125,468,339	K887E	probably benign	Het
Stard9	C	A	2: 120,701,314	T2684N	probably benign	Het
Stard9	A	C	2: 120,704,542	Q3760P	probably benign	Het
Stpg2	A	G	3: 139,215,295	E87G	probably benign	Het
Syne2	A	G	12: 76,059,457	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,642,548	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,173,813	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,672,028	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,428,032	I215N	possibly damaging	Het
Tpd52	G	A	3: 8,963,856	Q43*	probably null	Het
Trpa1	T	A	1: 14,882,233	N858I	possibly damaging	Het
Ttc30b	C	T	2: 75,938,061	R116H	possibly damaging	Het
Ttll5	A	G	12: 85,925,764	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,287,311	T62I	probably benign	Het
Wdr59	A	T	8: 111,458,735	N874K		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
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
R5091:Gimap8	UTSW	6	48656647	missense	possibly damaging	0.91
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
R7666:Gimap8	UTSW	6	48659155	missense	probably damaging	1.00
R7686:Gimap8	UTSW	6	48656072	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGGGATGAGGCCTTTTAGAAC -3'
(R):5'- TCACCAGCAGAAAGGCATG -3'

Sequencing Primer
(F):5'- GAGGCCTTTTAGAACTGGTCACAAC -3'
(R):5'- CAGCAGAAAGGCATGGGGAC -3'

Posted On

2019-06-26