Mutagenetix > Incidental Mutation

Incidental Mutation 'R6450:Gimap8'

519341

Institutional Source

Beutler Lab

Gene Symbol

Gimap8

Ensembl Gene

ENSMUSG00000064262

Gene Name

GTPase, IMAP family member 8

Synonyms

LOC243374, IAN9

MMRRC Submission

044586-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6450 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48624168-48637809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48633385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 401 (F401L)

Ref Sequence

ENSEMBL: ENSMUSP00000145255 (fasta)

Gene Model

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

AlphaFold

Q75N62

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 benign
Transcript: ENSMUST00000203083
AA Change: F401L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: F401L

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 benign
Transcript: ENSMUST00000203509
AA Change: F401L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: F401L

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.1%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	G	7: 119,815,449 (GRCm39)	N232K	probably benign	Het
Acaca	T	A	11: 84,171,294 (GRCm39)	V5E	probably damaging	Het
Adam18	A	T	8: 25,119,691 (GRCm39)	D529E	probably benign	Het
Adgrb3	T	C	1: 25,459,683 (GRCm39)	T798A	probably benign	Het
Alyref	T	C	11: 120,486,872 (GRCm39)	T130A	probably benign	Het
Arhgap24	A	G	5: 103,044,990 (GRCm39)	S591G	probably benign	Het
Carmil1	C	T	13: 24,220,547 (GRCm39)	G655E	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,518 (GRCm39)		probably null	Het
Clec12a	T	A	6: 129,330,366 (GRCm39)	L48H	probably damaging	Het
Coq2	C	A	5: 100,809,770 (GRCm39)		probably benign	Het
Crb2	C	A	2: 37,683,838 (GRCm39)	F1113L	possibly damaging	Het
Ctla4	A	T	1: 60,951,872 (GRCm39)	M134L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dync2i1	A	T	12: 116,210,347 (GRCm39)	Y314*	probably null	Het
Efhb	A	G	17: 53,759,632 (GRCm39)	V290A	possibly damaging	Het
Epha8	T	C	4: 136,659,210 (GRCm39)	N843S	probably damaging	Het
Eva1a	A	T	6: 82,069,086 (GRCm39)	I138F	probably damaging	Het
Fat2	T	A	11: 55,180,136 (GRCm39)	I1402F	probably damaging	Het
Fat3	A	T	9: 15,910,466 (GRCm39)	H1845Q	possibly damaging	Het
Gpr162	C	T	6: 124,838,152 (GRCm39)	R166Q	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hdac4	G	A	1: 91,912,433 (GRCm39)	P348S	possibly damaging	Het
Hmcn2	T	C	2: 31,251,812 (GRCm39)	V849A	probably benign	Het
Inpp5b	T	A	4: 124,686,045 (GRCm39)	N696K	probably damaging	Het
Kdm5d	G	T	Y: 927,056 (GRCm39)	R598L	probably damaging	Homo
Kidins220	T	C	12: 25,107,190 (GRCm39)	S1548P	probably benign	Het
Kif2b	C	A	11: 91,467,192 (GRCm39)	V364L	probably damaging	Het
Kitl	A	G	10: 99,923,256 (GRCm39)	M1V	probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Map6	T	C	7: 98,917,245 (GRCm39)	I6T	probably damaging	Het
Mastl	T	C	2: 23,010,941 (GRCm39)	T768A	probably damaging	Het
Mettl16	T	C	11: 74,696,164 (GRCm39)	V335A	probably benign	Het
Mpl	T	C	4: 118,305,897 (GRCm39)		probably null	Het
Myo5c	C	T	9: 75,193,860 (GRCm39)	T1205I	probably benign	Het
Nav2	C	A	7: 49,244,114 (GRCm39)	L2114I	probably damaging	Het
Neb	T	A	2: 52,084,481 (GRCm39)	K5330*	probably null	Het
Nfe2l1	C	T	11: 96,718,161 (GRCm39)	E125K	possibly damaging	Het
Onecut3	A	G	10: 80,331,922 (GRCm39)	K361E	probably damaging	Het
Or4f47	T	A	2: 111,972,725 (GRCm39)	L145*	probably null	Het
Osbpl6	A	G	2: 76,395,174 (GRCm39)	N370S	possibly damaging	Het
Otud4	T	A	8: 80,399,626 (GRCm39)	M780K	probably benign	Het
P2rx4	A	G	5: 122,865,304 (GRCm39)	T310A	possibly damaging	Het
Pcdha11	G	T	18: 37,146,215 (GRCm39)	D769Y	probably damaging	Het
Pcgf6	C	T	19: 47,037,527 (GRCm39)	R124H	probably benign	Het
Pibf1	T	A	14: 99,374,646 (GRCm39)	Y362N	probably damaging	Het
Ppm1g	T	C	5: 31,360,468 (GRCm39)	E422G	probably benign	Het
Prmt8	T	C	6: 127,709,606 (GRCm39)	I85V	possibly damaging	Het
Prss27	A	T	17: 24,263,988 (GRCm39)	K225*	probably null	Het
Rai1	A	T	11: 60,077,429 (GRCm39)	T498S	probably benign	Het
Sbf2	C	A	7: 110,062,070 (GRCm39)	G23V	probably damaging	Het
Sdha	C	T	13: 74,482,412 (GRCm39)		probably null	Het
Sgo2a	C	T	1: 58,042,092 (GRCm39)	Q140*	probably null	Het
Sh3rf3	A	G	10: 58,819,966 (GRCm39)	D259G	probably damaging	Het
Slc27a3	C	A	3: 90,292,777 (GRCm39)	D631Y	probably damaging	Het
Slc7a10	T	C	7: 34,886,015 (GRCm39)	S37P	possibly damaging	Het
Slco6d1	A	G	1: 98,349,192 (GRCm39)	T88A	probably benign	Het
Smad4	A	T	18: 73,810,817 (GRCm39)	S56T	possibly damaging	Het
Smarcd1	A	G	15: 99,605,766 (GRCm39)	I346V	possibly damaging	Het
Spast	C	T	17: 74,675,835 (GRCm39)	P260S	probably benign	Het
Spata31f1e	C	A	4: 42,792,489 (GRCm39)	G548W	probably damaging	Het
Sprr2i	A	T	3: 92,316,017 (GRCm39)		probably benign	Het
Sptbn5	A	G	2: 119,877,616 (GRCm39)		probably benign	Het
Taar9	A	T	10: 23,985,138 (GRCm39)	Y99N	probably damaging	Het
Trappc10	A	T	10: 78,045,284 (GRCm39)	M468K	possibly damaging	Het
Trim66	T	C	7: 109,059,945 (GRCm39)	R814G	probably benign	Het
Tspan31	A	G	10: 126,904,227 (GRCm39)	C157R	probably damaging	Het
Vmn2r90	A	G	17: 17,953,498 (GRCm39)	D554G	possibly damaging	Het
Vmn2r91	A	T	17: 18,305,527 (GRCm39)	D70V	probably damaging	Het
Wdfy4	C	T	14: 32,830,649 (GRCm39)	G928R	probably damaging	Het
Zfp346	G	T	13: 55,261,517 (GRCm39)	K102N	probably damaging	Het
Zmym4	G	A	4: 126,789,099 (GRCm39)	P1002S	probably damaging	Het

Other mutations in Gimap8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Gimap8	APN	6	48,635,701 (GRCm39)	missense	probably damaging	1.00
IGL02830:Gimap8	APN	6	48,633,239 (GRCm39)	missense	probably benign	0.01
Kangchenjunga	UTSW	6	48,636,097 (GRCm39)	missense	probably damaging	1.00
lhotse	UTSW	6	48,635,888 (GRCm39)	missense	possibly damaging	0.74
Makalu	UTSW	6	48,633,122 (GRCm39)	missense	probably damaging	1.00
R1224:Gimap8	UTSW	6	48,627,629 (GRCm39)	missense	probably benign	0.04
R1386:Gimap8	UTSW	6	48,633,587 (GRCm39)	missense	probably benign	0.04
R1503:Gimap8	UTSW	6	48,624,463 (GRCm39)	critical splice donor site	probably null
R1560:Gimap8	UTSW	6	48,633,068 (GRCm39)	missense	probably damaging	1.00
R1681:Gimap8	UTSW	6	48,633,345 (GRCm39)	missense	probably benign	0.01
R2012:Gimap8	UTSW	6	48,633,287 (GRCm39)	missense	probably damaging	0.98
R2094:Gimap8	UTSW	6	48,627,502 (GRCm39)	missense	probably benign	0.00
R2937:Gimap8	UTSW	6	48,635,730 (GRCm39)	missense	possibly damaging	0.55
R2938:Gimap8	UTSW	6	48,635,730 (GRCm39)	missense	possibly damaging	0.55
R3147:Gimap8	UTSW	6	48,627,440 (GRCm39)	missense	probably damaging	1.00
R4276:Gimap8	UTSW	6	48,636,017 (GRCm39)	missense	probably benign	0.35
R4281:Gimap8	UTSW	6	48,635,754 (GRCm39)	missense	probably benign	0.37
R4294:Gimap8	UTSW	6	48,635,891 (GRCm39)	missense	probably benign	0.00
R4713:Gimap8	UTSW	6	48,635,920 (GRCm39)	missense	probably benign	0.23
R4750:Gimap8	UTSW	6	48,627,361 (GRCm39)	missense	probably benign	0.01
R4896:Gimap8	UTSW	6	48,636,281 (GRCm39)	missense	possibly damaging	0.85
R4936:Gimap8	UTSW	6	48,633,068 (GRCm39)	missense	probably damaging	1.00
R5041:Gimap8	UTSW	6	48,636,097 (GRCm39)	missense	probably damaging	1.00
R5091:Gimap8	UTSW	6	48,633,581 (GRCm39)	missense	possibly damaging	0.91
R5215:Gimap8	UTSW	6	48,628,017 (GRCm39)	missense	possibly damaging	0.88
R5360:Gimap8	UTSW	6	48,633,236 (GRCm39)	missense	probably damaging	1.00
R6119:Gimap8	UTSW	6	48,635,888 (GRCm39)	missense	possibly damaging	0.74
R6221:Gimap8	UTSW	6	48,635,876 (GRCm39)	missense	probably damaging	1.00
R7137:Gimap8	UTSW	6	48,627,187 (GRCm39)	missense	probably damaging	0.99
R7154:Gimap8	UTSW	6	48,633,122 (GRCm39)	missense	probably damaging	1.00
R7666:Gimap8	UTSW	6	48,636,089 (GRCm39)	missense	probably damaging	1.00
R7686:Gimap8	UTSW	6	48,633,006 (GRCm39)	missense	probably damaging	0.99
R7912:Gimap8	UTSW	6	48,627,999 (GRCm39)	missense	probably benign	0.09
R8467:Gimap8	UTSW	6	48,627,269 (GRCm39)	missense	probably benign	0.02
R8773:Gimap8	UTSW	6	48,633,545 (GRCm39)	missense	probably benign	0.01
R9202:Gimap8	UTSW	6	48,633,403 (GRCm39)	missense	probably benign	0.00
R9773:Gimap8	UTSW	6	48,633,568 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATTCTCCAGAGATCTCATCGTGG -3'
(R):5'- TTCTCTCTGATGACGCAAGG -3'

Sequencing Primer
(F):5'- CAGAGATCTCATCGTGGAAGCTTG -3'
(R):5'- TGTGGCACTGCACCATC -3'

Posted On

2018-05-24