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

IAN9, LOC243374

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6450 (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 48656451 bp (GRCm38)

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: 120,216,226	N232K	probably benign	Het
Acaca	T	A	11: 84,280,468	V5E	probably damaging	Het
Adam18	A	T	8: 24,629,675	D529E	probably benign	Het
Adgrb3	T	C	1: 25,420,602	T798A	probably benign	Het
Alyref	T	C	11: 120,596,046	T130A	probably benign	Het
Arhgap24	A	G	5: 102,897,124	S591G	probably benign	Het
Carmil1	C	T	13: 24,036,564	G655E	probably damaging	Het
Cdc42bpg	T	A	19: 6,314,488		probably null	Het
Clec12a	T	A	6: 129,353,403	L48H	probably damaging	Het
Coq2	C	A	5: 100,661,904		probably benign	Het
Crb2	C	A	2: 37,793,826	F1113L	possibly damaging	Het
Ctla4	A	T	1: 60,912,713	M134L	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Efhb	A	G	17: 53,452,604	V290A	possibly damaging	Het
Epha8	T	C	4: 136,931,899	N843S	probably damaging	Het
Eva1a	A	T	6: 82,092,105	I138F	probably damaging	Het
Fat2	T	A	11: 55,289,310	I1402F	probably damaging	Het
Fat3	A	T	9: 15,999,170	H1845Q	possibly damaging	Het
Gm12394	C	A	4: 42,792,489	G548W	probably damaging	Het
Gpr162	C	T	6: 124,861,189	R166Q	possibly damaging	Het
Hdac4	G	A	1: 91,984,711	P348S	possibly damaging	Het
Hist1h2ae	A	G	13: 23,570,945	V55A	probably damaging	Het
Hmcn2	T	C	2: 31,361,800	V849A	probably benign	Het
Inpp5b	T	A	4: 124,792,252	N696K	probably damaging	Het
Kdm5d	G	T	Y: 927,056	R598L	probably damaging	Homo
Kidins220	T	C	12: 25,057,191	S1548P	probably benign	Het
Kif2b	C	A	11: 91,576,366	V364L	probably damaging	Het
Kitl	A	G	10: 100,087,394	M1V	probably null	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Map6	T	C	7: 99,268,038	I6T	probably damaging	Het
Mastl	T	C	2: 23,120,929	T768A	probably damaging	Het
Mettl16	T	C	11: 74,805,338	V335A	probably benign	Het
Mpl	T	C	4: 118,448,700		probably null	Het
Myo5c	C	T	9: 75,286,578	T1205I	probably benign	Het
Nav2	C	A	7: 49,594,366	L2114I	probably damaging	Het
Neb	T	A	2: 52,194,469	K5330*	probably null	Het
Nfe2l1	C	T	11: 96,827,335	E125K	possibly damaging	Het
Olfr1317	T	A	2: 112,142,380	L145*	probably null	Het
Onecut3	A	G	10: 80,496,088	K361E	probably damaging	Het
Osbpl6	A	G	2: 76,564,830	N370S	possibly damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
P2rx4	A	G	5: 122,727,241	T310A	possibly damaging	Het
Pcdha11	G	T	18: 37,013,162	D769Y	probably damaging	Het
Pcgf6	C	T	19: 47,049,088	R124H	probably benign	Het
Pibf1	T	A	14: 99,137,210	Y362N	probably damaging	Het
Ppm1g	T	C	5: 31,203,124	E422G	probably benign	Het
Prmt8	T	C	6: 127,732,643	I85V	possibly damaging	Het
Prss27	A	T	17: 24,045,014	K225*	probably null	Het
Rai1	A	T	11: 60,186,603	T498S	probably benign	Het
Sbf2	C	A	7: 110,462,863	G23V	probably damaging	Het
Sdha	C	T	13: 74,334,293		probably null	Het
Sgo2a	C	T	1: 58,002,933	Q140*	probably null	Het
Sh3rf3	A	G	10: 58,984,144	D259G	probably damaging	Het
Slc27a3	C	A	3: 90,385,470	D631Y	probably damaging	Het
Slc7a10	T	C	7: 35,186,590	S37P	possibly damaging	Het
Slco6d1	A	G	1: 98,421,467	T88A	probably benign	Het
Smad4	A	T	18: 73,677,746	S56T	possibly damaging	Het
Smarcd1	A	G	15: 99,707,885	I346V	possibly damaging	Het
Spast	C	T	17: 74,368,840	P260S	probably benign	Het
Sprr2i	A	T	3: 92,408,710		probably benign	Het
Sptbn5	A	G	2: 120,047,135		probably benign	Het
Taar9	A	T	10: 24,109,240	Y99N	probably damaging	Het
Trappc10	A	T	10: 78,209,450	M468K	possibly damaging	Het
Trim66	T	C	7: 109,460,738	R814G	probably benign	Het
Tspan31	A	G	10: 127,068,358	C157R	probably damaging	Het
Vmn2r90	A	G	17: 17,733,236	D554G	possibly damaging	Het
Vmn2r91	A	T	17: 18,085,265	D70V	probably damaging	Het
Wdfy4	C	T	14: 33,108,692	G928R	probably damaging	Het
Wdr60	A	T	12: 116,246,727	Y314*	probably null	Het
Zfp346	G	T	13: 55,113,704	K102N	probably damaging	Het
Zmym4	G	A	4: 126,895,306	P1002S	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
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
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'- ATTCTCCAGAGATCTCATCGTGG -3'
(R):5'- TTCTCTCTGATGACGCAAGG -3'

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

Posted On

2018-05-24