Mutagenetix > Incidental Mutation

Incidental Mutation 'R9112:Gimap4'

692295

Institutional Source

Beutler Lab

Gene Symbol

Gimap4

Ensembl Gene

ENSMUSG00000054435

Gene Name

GTPase, IMAP family member 4

Synonyms

Ian1, E430007K16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9112 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48661483-48668994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48667629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 128 (V128E)

Ref Sequence

ENSEMBL: ENSMUSP00000068398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067506] [ENSMUST00000090070] [ENSMUST00000118802] [ENSMUST00000119575] [ENSMUST00000121957] [ENSMUST00000156770]

AlphaFold

Q99JY3

Predicted Effect

probably benign
Transcript: ENSMUST00000067506
AA Change: V128E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000068398
Gene: ENSMUSG00000054435
AA Change: V128E

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	218	4.2e-72	PFAM
Pfam:MMR_HSR1	32	186	2.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090070
AA Change: V128E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000087524
Gene: ENSMUSG00000054435
AA Change: V128E

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	242	1.5e-80	PFAM
Pfam:MMR_HSR1	32	170	1.6e-10	PFAM
low complexity region	265	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118802

SMART Domains

Protein: ENSMUSP00000112530
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	53	1.6e-7	PFAM
Pfam:AIG1	48	114	6.4e-17	PFAM
low complexity region	137	154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119575

SMART Domains

Protein: ENSMUSP00000113989
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
SCOP:d1zin_1	31	50	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121957

SMART Domains

Protein: ENSMUSP00000113016
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	55	4.3e-8	PFAM
Pfam:AIG1	48	89	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156770

SMART Domains

Protein: ENSMUSP00000122070
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	69	6.7e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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. This gene exists within a cluster of other related genes located on mouse chromosome 6. This family member encodes a lymphoid signaling protein that functions to accelerate programmed T-cell death, which appears to correlate with the phosphorylation status of the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show no detectable alterations in T-cell development, selection and activation; however, mutant T cells exhibit a delay in the execution of programmed cell death induced by intrinsic stimuli downstream of caspase-3 activation and phosphatidylserine exposure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,100,806 (GRCm39)	S181G	possibly damaging	Het
5730596B20Rik	A	G	6: 52,156,413 (GRCm39)	R160G	unknown	Het
Acy1	A	G	9: 106,311,952 (GRCm39)	Y262H	probably benign	Het
Adamts13	T	C	2: 26,880,379 (GRCm39)	S681P	possibly damaging	Het
Adgra3	C	A	5: 50,118,395 (GRCm39)	C1051F	probably damaging	Het
Afp	T	C	5: 90,652,289 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,261,514 (GRCm39)	V568E	probably damaging	Het
Ahnak	A	G	19: 8,987,149 (GRCm39)	E2811G	probably damaging	Het
Ap1m1	C	A	8: 72,994,066 (GRCm39)	Y7*	probably null	Het
Apobec1	T	A	6: 122,555,837 (GRCm39)	T207S	probably benign	Het
Arhgap32	G	A	9: 32,157,309 (GRCm39)	R102Q	probably damaging	Het
Bcat2	T	C	7: 45,237,446 (GRCm39)		probably null	Het
Cd209f	T	A	8: 4,155,802 (GRCm39)		probably benign	Het
Cox7c	G	A	13: 86,194,837 (GRCm39)		probably benign	Het
Cyp2d11	A	G	15: 82,276,203 (GRCm39)	V156A	possibly damaging	Het
Dhrs3	A	T	4: 144,653,769 (GRCm39)	T297S	probably benign	Het
Dip2c	T	C	13: 9,660,766 (GRCm39)	C876R	probably damaging	Het
Eprs1	A	T	1: 185,129,273 (GRCm39)	I587F	probably damaging	Het
Fam13c	A	G	10: 70,286,978 (GRCm39)	T81A	probably benign	Het
Flt4	A	G	11: 49,524,064 (GRCm39)	Y548C	probably damaging	Het
Garin2	T	C	12: 78,757,202 (GRCm39)		probably null	Het
Gm32742	A	G	9: 51,060,735 (GRCm39)	L856P	possibly damaging	Het
Gm5916	A	G	9: 36,032,258 (GRCm39)	Y59H	probably damaging	Het
Gnai3	A	T	3: 108,030,990 (GRCm39)	H57Q		Het
Golga3	G	T	5: 110,333,757 (GRCm39)	R131L	probably benign	Het
Gpc6	A	T	14: 117,424,088 (GRCm39)	I59F	probably benign	Het
H2bc6	T	C	13: 23,769,753 (GRCm39)	M63V	possibly damaging	Het
Herc6	T	C	6: 57,596,604 (GRCm39)	S515P	probably damaging	Het
Ift74	T	C	4: 94,575,103 (GRCm39)	I518T	probably benign	Het
Kat6b	T	C	14: 21,675,256 (GRCm39)	S474P	possibly damaging	Het
Klhl3	A	C	13: 58,248,212 (GRCm39)	I28S	unknown	Het
Klrh1	T	A	6: 129,743,697 (GRCm39)	I196F	probably benign	Het
Lipi	A	G	16: 75,359,159 (GRCm39)	F259S	probably damaging	Het
Lrrc8a	T	A	2: 30,145,782 (GRCm39)	S199T	probably damaging	Het
Map2	T	A	1: 66,472,723 (GRCm39)	C1709*	probably null	Het
Mrgprf	A	G	7: 144,861,503 (GRCm39)	S22G	probably benign	Het
Myo1e	G	T	9: 70,274,983 (GRCm39)	R712L	probably benign	Het
Nras	A	T	3: 102,967,658 (GRCm39)	N85Y	probably benign	Het
Or4a71	C	T	2: 89,358,337 (GRCm39)	C139Y	probably damaging	Het
Or5b3	A	T	19: 13,388,475 (GRCm39)	I181F	probably benign	Het
Or6ae1	A	G	7: 139,742,660 (GRCm39)	S68P		Het
Or9q2	T	C	19: 13,772,780 (GRCm39)	H65R	probably damaging	Het
Pcp2	T	A	8: 3,674,638 (GRCm39)		probably benign	Het
Pigv	T	C	4: 133,392,079 (GRCm39)	R364G	probably benign	Het
Plekhh3	T	A	11: 101,061,625 (GRCm39)	S30C	probably damaging	Het
Poglut3	A	G	9: 53,295,530 (GRCm39)	Y44C	probably damaging	Het
Pramel11	A	C	4: 143,623,334 (GRCm39)	V280G	possibly damaging	Het
Pramel51	C	T	12: 88,144,055 (GRCm39)	A261T	possibly damaging	Het
Rhof	T	C	5: 123,258,571 (GRCm39)		probably benign	Het
Rufy3	A	T	5: 88,780,336 (GRCm39)	E361D		Het
Serpina1b	T	C	12: 103,698,699 (GRCm39)	D50G	probably benign	Het
Sgsm2	G	A	11: 74,756,222 (GRCm39)	Q376*	probably null	Het
Slc18b1	A	T	10: 23,692,262 (GRCm39)	I246F	probably damaging	Het
Slc38a9	A	T	13: 112,850,777 (GRCm39)	N387I	probably damaging	Het
Synrg	C	G	11: 83,862,409 (GRCm39)	P35A	probably damaging	Het
Tdrp	T	C	8: 14,005,796 (GRCm39)	K42E	probably damaging	Het
Trappc10	A	C	10: 78,029,201 (GRCm39)	M1112R	probably damaging	Het
Ube2e1	A	G	14: 18,285,203 (GRCm38)	V90A	probably damaging	Het
Vwde	C	A	6: 13,205,051 (GRCm39)	V277F	possibly damaging	Het
Zfyve16	A	G	13: 92,659,563 (GRCm39)	M116T	possibly damaging	Het

Other mutations in Gimap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Gimap4	APN	6	48,667,872 (GRCm39)	missense	probably damaging	1.00
IGL01917:Gimap4	APN	6	48,667,854 (GRCm39)	missense	probably benign	0.02
IGL02302:Gimap4	APN	6	48,667,347 (GRCm39)	missense	probably damaging	1.00
IGL02679:Gimap4	APN	6	48,667,429 (GRCm39)	nonsense	probably null
R1466:Gimap4	UTSW	6	48,668,216 (GRCm39)	missense	probably benign	0.17
R1466:Gimap4	UTSW	6	48,668,216 (GRCm39)	missense	probably benign	0.17
R1584:Gimap4	UTSW	6	48,668,216 (GRCm39)	missense	probably benign	0.17
R2079:Gimap4	UTSW	6	48,667,881 (GRCm39)	missense	possibly damaging	0.46
R2118:Gimap4	UTSW	6	48,667,905 (GRCm39)	missense	probably benign	0.24
R2566:Gimap4	UTSW	6	48,667,799 (GRCm39)	missense	probably damaging	1.00
R4279:Gimap4	UTSW	6	48,667,511 (GRCm39)	missense	probably benign	0.22
R5592:Gimap4	UTSW	6	48,668,092 (GRCm39)	missense	probably damaging	0.99
R5597:Gimap4	UTSW	6	48,667,698 (GRCm39)	missense	probably damaging	1.00
R6162:Gimap4	UTSW	6	48,667,655 (GRCm39)	missense	probably damaging	0.97
R6354:Gimap4	UTSW	6	48,663,814 (GRCm39)	missense	possibly damaging	0.53
R6658:Gimap4	UTSW	6	48,668,338 (GRCm39)	missense	possibly damaging	0.65
R8028:Gimap4	UTSW	6	48,667,684 (GRCm39)	missense	probably damaging	0.98
R8349:Gimap4	UTSW	6	48,667,694 (GRCm39)	missense	probably damaging	1.00
R8449:Gimap4	UTSW	6	48,667,694 (GRCm39)	missense	probably damaging	1.00
R8993:Gimap4	UTSW	6	48,667,539 (GRCm39)	missense	probably damaging	1.00
R9366:Gimap4	UTSW	6	48,668,037 (GRCm39)	missense	probably benign
R9367:Gimap4	UTSW	6	48,667,746 (GRCm39)	missense	probably damaging	1.00
R9477:Gimap4	UTSW	6	48,667,314 (GRCm39)	missense	probably benign	0.01
X0050:Gimap4	UTSW	6	48,667,734 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTGTGCAAAATCCATCACCAAGG -3'
(R):5'- TGAGGCTCTGTTGTTGAACAAAC -3'

Sequencing Primer
(F):5'- ATCCATCACCAAGGTCTGTG -3'
(R):5'- CAGTAGCGATTCTGGAACTCATGC -3'

Posted On

2021-12-30