Mutagenetix > Incidental Mutation

Incidental Mutation 'R0442:Gimap9'

39214

Institutional Source

Beutler Lab

Gene Symbol

Gimap9

Ensembl Gene

ENSMUSG00000051124

Gene Name

GTPase, IMAP family member 9

Synonyms

MMRRC Submission

038643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0442 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

48653084-48656050 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 48655000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 196 (G196*)

Ref Sequence

ENSEMBL: ENSMUSP00000050330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054050] [ENSMUST00000147936]

AlphaFold

G3X987

Predicted Effect

probably null
Transcript: ENSMUST00000054050
AA Change: G196*

SMART Domains

Protein: ENSMUSP00000050330
Gene: ENSMUSG00000051124
AA Change: G196*

Domain	Start	End	E-Value	Type
Pfam:AIG1	9	219	8.5e-83	PFAM
Pfam:MMR_HSR1	10	157	3.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147936

SMART Domains

Protein: ENSMUSP00000122830
Gene: ENSMUSG00000051124

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	1	123	7.3e-11	PFAM
Pfam:AIG1	1	138	5.6e-61	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.5%
10x: 93.4%
20x: 81.2%

Validation Efficiency

99% (70/71)

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. 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
Adgrb3	T	A	1: 25,435,551 (GRCm39)	N816Y	probably damaging	Het
Arfgef3	T	C	10: 18,553,563 (GRCm39)		probably benign	Het
Cd200	T	A	16: 45,217,518 (GRCm39)	S58C	probably damaging	Het
Cep128	C	T	12: 91,233,545 (GRCm39)	E508K	probably damaging	Het
Dnah2	C	A	11: 69,339,368 (GRCm39)	L3046F	probably damaging	Het
Duox2	T	C	2: 122,119,813 (GRCm39)	N872D	probably benign	Het
Fam90a1a	C	T	8: 22,453,074 (GRCm39)	T143I	probably benign	Het
Fdft1	T	C	14: 63,400,798 (GRCm39)	T112A	probably benign	Het
Grhl1	G	A	12: 24,662,169 (GRCm39)	R536Q	probably damaging	Het
Gtpbp3	T	A	8: 71,944,135 (GRCm39)	V293E	probably damaging	Het
Hcn3	A	T	3: 89,058,847 (GRCm39)	F251Y	probably damaging	Het
Hectd4	T	A	5: 121,462,045 (GRCm39)	C971S	possibly damaging	Het
Helz2	T	A	2: 180,874,002 (GRCm39)	D2164V	probably damaging	Het
Hif1an	T	G	19: 44,554,451 (GRCm39)	L188R	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 88,023,266 (GRCm39)	P519L	probably damaging	Het
Jakmip1	T	G	5: 37,292,897 (GRCm39)		probably null	Het
Klra1	T	C	6: 130,349,835 (GRCm39)	Y201C	probably damaging	Het
Minpp1	T	C	19: 32,471,348 (GRCm39)	F299L	possibly damaging	Het
Myb	A	G	10: 21,002,095 (GRCm39)	S749P	probably benign	Het
Myo3b	T	C	2: 70,069,305 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,581,024 (GRCm39)	R74S	probably benign	Het
Nt5m	A	G	11: 59,765,445 (GRCm39)	T158A	possibly damaging	Het
Obscn	A	T	11: 58,893,000 (GRCm39)		probably benign	Het
Or5af1	T	A	11: 58,722,257 (GRCm39)	Y92*	probably null	Het
Or5b119	T	G	19: 13,457,412 (GRCm39)	D50A	probably damaging	Het
Or6c210	T	C	10: 129,495,693 (GRCm39)	I6T	probably benign	Het
Otogl	T	A	10: 107,712,716 (GRCm39)	T543S	probably damaging	Het
Pds5b	T	C	5: 150,640,009 (GRCm39)		probably benign	Het
Plekhm1	A	G	11: 103,288,000 (GRCm39)	M49T	possibly damaging	Het
Rabl6	A	T	2: 25,477,534 (GRCm39)	S305R	probably damaging	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rad54b	C	A	4: 11,610,362 (GRCm39)	R660S	probably benign	Het
Rexo5	T	C	7: 119,442,508 (GRCm39)	L542P	probably damaging	Het
Rp1	C	T	1: 4,416,970 (GRCm39)	D1381N	probably benign	Het
Scnn1a	T	G	6: 125,316,100 (GRCm39)	M346R	probably damaging	Het
Sirpb1c	A	G	3: 15,856,710 (GRCm39)	I380T	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sstr3	A	T	15: 78,424,597 (GRCm39)	L50Q	probably damaging	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Sun5	T	C	2: 153,712,872 (GRCm39)	D16G	possibly damaging	Het
Svil	A	T	18: 5,046,870 (GRCm39)	T39S	probably damaging	Het
Taar1	A	G	10: 23,796,380 (GRCm39)	Y26C	possibly damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Use1	T	C	8: 71,819,702 (GRCm39)		probably benign	Het
Usp54	T	C	14: 20,657,277 (GRCm39)	Y7C	probably damaging	Het
Zbtb37	A	G	1: 160,859,918 (GRCm39)	F129S	possibly damaging	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp28	T	C	7: 6,397,998 (GRCm39)	L811P	probably damaging	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het

Other mutations in Gimap9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Gimap9	APN	6	48,654,851 (GRCm39)	critical splice donor site	probably null
IGL01568:Gimap9	APN	6	48,654,550 (GRCm39)	missense	probably benign	0.07
R1354:Gimap9	UTSW	6	48,654,982 (GRCm39)	missense	probably benign	0.24
R2276:Gimap9	UTSW	6	48,654,812 (GRCm39)	missense	probably benign	0.00
R6190:Gimap9	UTSW	6	48,655,285 (GRCm39)	missense	probably damaging	1.00
R6930:Gimap9	UTSW	6	48,654,601 (GRCm39)	missense	probably damaging	1.00
R7116:Gimap9	UTSW	6	48,654,989 (GRCm39)	missense	probably benign	0.05
R8819:Gimap9	UTSW	6	48,654,821 (GRCm39)	missense	probably benign	0.09
R8820:Gimap9	UTSW	6	48,654,821 (GRCm39)	missense	probably benign	0.09
R9346:Gimap9	UTSW	6	48,654,492 (GRCm39)	missense	probably damaging	1.00
R9536:Gimap9	UTSW	6	48,654,416 (GRCm39)	start codon destroyed	probably null	1.00
R9559:Gimap9	UTSW	6	48,655,134 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGCGACTGGACCGTTACACTGA -3'
(R):5'- AAAACAATTTGTGCCGCCTTTCCTT -3'

Sequencing Primer
(F):5'- AACGGTCGCTCTGATCAAG -3'
(R):5'- GCCTTTCCTTTTTCTAATTTAGCAG -3'

Posted On

2013-05-23