Mutagenetix > Incidental Mutation

Incidental Mutation 'R5215:Gimap8'

403410

Institutional Source

Beutler Lab

Gene Symbol

Gimap8

Ensembl Gene

ENSMUSG00000064262

Gene Name

GTPase, IMAP family member 8

Synonyms

LOC243374, IAN9

MMRRC Submission

042788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48624168-48637809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48628017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 258 (Y258F)

Ref Sequence

ENSEMBL: ENSMUSP00000145255 (fasta)

Gene Model

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

AlphaFold

Q75N62

Predicted Effect

probably benign
Transcript: ENSMUST00000078223
AA Change: Y258F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000077350
Gene: ENSMUSG00000064262
AA Change: Y258F

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: Y258F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: Y258F

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: Y258F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: Y258F

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,120,574 (GRCm39)	A73S	probably benign	Het
Aldoart2	G	A	12: 55,612,204 (GRCm39)	R43Q	probably benign	Het
Ano4	T	C	10: 89,153,165 (GRCm39)	H49R	possibly damaging	Het
Atic	T	C	1: 71,603,666 (GRCm39)	S161P	probably damaging	Het
Atp6v1c2	T	C	12: 17,341,659 (GRCm39)	E244G	probably benign	Het
Cd164l2	C	A	4: 132,948,789 (GRCm39)	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,968,238 (GRCm39)	R156G	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk5	T	A	5: 24,624,459 (GRCm39)	N265I	probably benign	Het
Cfap69	G	T	5: 5,639,133 (GRCm39)	N262K	possibly damaging	Het
Chd6	C	T	2: 160,791,873 (GRCm39)	V2495M	probably damaging	Het
Cps1	T	A	1: 67,205,539 (GRCm39)	F521I	possibly damaging	Het
Crb2	A	G	2: 37,683,765 (GRCm39)	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795 (GRCm39)	D166G	probably damaging	Het
Dhodh	G	A	8: 110,332,975 (GRCm39)		probably benign	Het
Dnaaf5	G	A	5: 139,147,632 (GRCm39)	V399I	probably benign	Het
Dnah11	T	C	12: 118,121,096 (GRCm39)	T526A	probably benign	Het
Drosha	T	C	15: 12,885,219 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,558,401 (GRCm39)	I49F	probably damaging	Het
Gabra1	T	C	11: 42,045,655 (GRCm39)	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,292,988 (GRCm39)	T85K	probably damaging	Het
Glmn	A	G	5: 107,709,752 (GRCm39)	C351R	probably benign	Het
Gm10032	T	C	14: 67,029,998 (GRCm39)		noncoding transcript	Het
Gorasp2	G	A	2: 70,519,598 (GRCm39)	A328T	probably benign	Het
Grin1	A	T	2: 25,193,919 (GRCm39)	H392Q	probably benign	Het
Gzmn	A	G	14: 56,405,319 (GRCm39)	V55A	probably damaging	Het
Herc4	T	A	10: 63,124,876 (GRCm39)	S497T	probably benign	Het
Hrc	A	T	7: 44,985,515 (GRCm39)	D222V	probably damaging	Het
Iars2	T	C	1: 185,026,966 (GRCm39)	H761R	probably damaging	Het
Jmjd1c	T	A	10: 67,076,480 (GRCm39)	D2101E	possibly damaging	Het
Kcng1	C	T	2: 168,105,053 (GRCm39)	M264I	probably benign	Het
Klra14-ps	C	A	6: 130,134,646 (GRCm39)		noncoding transcript	Het
Krtap5-3	T	A	7: 141,755,974 (GRCm39)	C270*	probably null	Het
Lama3	A	G	18: 12,710,957 (GRCm39)	H3164R	probably damaging	Het
Lcor	T	C	19: 41,574,371 (GRCm39)	I1042T	probably damaging	Het
Mdn1	T	C	4: 32,741,418 (GRCm39)	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,538,440 (GRCm39)	H166L	probably benign	Het
Mx1	T	C	16: 97,249,560 (GRCm39)	N556D	possibly damaging	Het
Oca2	A	T	7: 55,945,246 (GRCm39)	R285*	probably null	Het
Or12d13	T	A	17: 37,647,704 (GRCm39)	I140F	probably benign	Het
Or2at1	A	G	7: 99,416,717 (GRCm39)	E116G	probably damaging	Het
Or4k39	T	C	2: 111,239,631 (GRCm39)		noncoding transcript	Het
Or56a3b	G	A	7: 104,775,771 (GRCm39)	H246Y	probably damaging	Het
Or8g33	A	T	9: 39,337,919 (GRCm39)	Y149*	probably null	Het
Pan3	A	G	5: 147,391,915 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,104,745 (GRCm39)	V496M	probably damaging	Het
Pdcd2l	A	T	7: 33,892,314 (GRCm39)	V185D	possibly damaging	Het
Pgghg	T	C	7: 140,526,477 (GRCm39)	V623A	possibly damaging	Het
Pigu	C	A	2: 155,177,249 (GRCm39)		probably benign	Het
Pkmyt1	G	A	17: 23,951,566 (GRCm39)	R40Q	probably benign	Het
Prag1	G	A	8: 36,567,043 (GRCm39)	A65T	probably benign	Het
Prkdc	C	A	16: 15,589,985 (GRCm39)	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,391,030 (GRCm39)	E1360K	probably benign	Het
Ptprt	C	T	2: 162,120,084 (GRCm39)	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,267,462 (GRCm39)	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,621,257 (GRCm39)	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,422,936 (GRCm39)		probably benign	Het
Slc22a16	T	A	10: 40,457,386 (GRCm39)	M209K	probably damaging	Het
Slf2	T	G	19: 44,936,476 (GRCm39)	L707R	probably damaging	Het
Son	T	A	16: 91,453,563 (GRCm39)	M770K	probably damaging	Het
Taf6l	T	C	19: 8,755,417 (GRCm39)		probably benign	Het
Tbc1d2	C	A	4: 46,614,006 (GRCm39)	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,152 (GRCm39)		probably benign	Het
Txndc16	A	T	14: 45,448,597 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,734,525 (GRCm39)	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,994,351 (GRCm39)	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,020,706 (GRCm39)	S46P	probably benign	Het
Zwilch	T	G	9: 64,054,156 (GRCm39)	I490L	probably benign	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
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
R6450:Gimap8	UTSW	6	48,633,385 (GRCm39)	missense	probably benign	0.03
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'- TACCACAGCATCTTCTGAAATAGC -3'
(R):5'- AACTTGAGCTCTGACGGCTG -3'

Sequencing Primer
(F):5'- GCATCTTCTGAAATAGCAAAACCTG -3'
(R):5'- TGTACCGATTCACACATGTCAGGAG -3'

Posted On

2016-07-22