Mutagenetix > Incidental Mutation

Incidental Mutation 'R5360:Gimap8'

424285

Institutional Source

Beutler Lab

Gene Symbol

Gimap8

Ensembl Gene

ENSMUSG00000064262

Gene Name

GTPase, IMAP family member 8

Synonyms

IAN9, LOC243374

MMRRC Submission

042939-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5360 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48647234-48660875 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48656302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 352 (S352P)

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 damaging
Transcript: ENSMUST00000203083
AA Change: S352P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: S352P

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: S352P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: S352P

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Acsl5	T	A	19: 55,291,160	Y443*	probably null	Het
Aox3	C	T	1: 58,146,508	T331M	probably damaging	Het
Arhgap32	G	A	9: 32,259,671	R1598H	probably damaging	Het
Atp1a2	A	G	1: 172,278,869		probably null	Het
Brpf3	A	T	17: 28,810,562	M499L	probably benign	Het
Cacnb1	A	T	11: 98,018,271		probably null	Het
Cep295	A	G	9: 15,326,733	S1899P	probably damaging	Het
Cntn2	A	G	1: 132,518,857	Y748H	probably damaging	Het
Csmd3	T	A	15: 47,669,203	Y2532F	probably damaging	Het
D17Wsu92e	A	T	17: 27,794,046	I59N	probably damaging	Het
Dsg1a	A	G	18: 20,340,954	D1028G	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gabra5	C	T	7: 57,490,785	G55R	probably damaging	Het
Gdf9	T	A	11: 53,437,207	F330Y	probably benign	Het
Gm4952	A	T	19: 12,623,629	H71L	probably benign	Het
Gm6803	A	C	12: 88,018,495	L93V	probably benign	Het
Gnaq	G	A	19: 16,133,426	R34H	probably benign	Het
Hebp2	T	C	10: 18,544,307	D126G	probably benign	Het
Hectd4	A	G	5: 121,315,401	D601G	possibly damaging	Het
Hook2	T	C	8: 85,001,404	Y577H	probably damaging	Het
Igfals	A	G	17: 24,880,093	T53A	probably benign	Het
Igsf9b	A	G	9: 27,311,672	D123G	probably damaging	Het
Ikbkap	A	T	4: 56,800,104	H7Q	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mdm4	A	T	1: 132,991,658	*490K	probably null	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Neurl2	C	A	2: 164,833,101	A114S	probably damaging	Het
Nuggc	A	G	14: 65,638,626	T563A	probably damaging	Het
Olfr951	T	G	9: 39,394,402	F204V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pdlim1	A	T	19: 40,230,549	S213T	probably damaging	Het
Pitx1	T	C	13: 55,828,478	I123V	probably damaging	Het
Pkd1l1	T	C	11: 8,879,204	N1013D	probably benign	Het
Pla2g2c	T	A	4: 138,734,345	Y42N	possibly damaging	Het
Polr2b	G	A	5: 77,349,146	A1168T	possibly damaging	Het
Ppp2r2a	G	A	14: 67,016,571	R383*	probably null	Het
Prl7a2	C	T	13: 27,659,160	R220H	probably benign	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rc3h2	A	G	2: 37,389,855	V454A	possibly damaging	Het
Robo1	A	G	16: 72,935,777	T307A	probably damaging	Het
Slc22a6	T	C	19: 8,619,422	L188P	probably damaging	Het
Spag17	A	G	3: 100,109,410	N2167S	probably benign	Het
Spag5	G	A	11: 78,314,762	E680K	probably damaging	Het
Spata6	A	G	4: 111,822,829	Y428C	possibly damaging	Het
Tbc1d5	T	C	17: 50,984,632	D47G	probably benign	Het
Trp53	T	C	11: 69,588,740		probably null	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,417,267		probably benign	Het
Ttc39b	T	C	4: 83,261,847	D103G	probably damaging	Het
Ttn	A	C	2: 76,919,978	W3576G	probably benign	Het
Yeats2	T	A	16: 20,154,162	M22K	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
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'- ATCCAGACATGCCAGAGCTG -3'
(R):5'- TCTAGAGCCTGATCCTCAAAATCTTC -3'

Sequencing Primer
(F):5'- ACATGCCAGAGCTGAGGGTC -3'
(R):5'- CTTTCCTGGTAAAGAGAACAATTGTG -3'

Posted On

2016-08-04