Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Gimap6'

579025

Institutional Source

Beutler Lab

Gene Symbol

Gimap6

Ensembl Gene

ENSMUSG00000047867

Gene Name

GTPase, IMAP family member 6

Synonyms

4833419H03Rik, Ian6

MMRRC Submission

045543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48678516-48685159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48679392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 215 (T215S)

Ref Sequence

ENSEMBL: ENSMUSP00000059371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053661] [ENSMUST00000119315] [ENSMUST00000126422]

AlphaFold

Q8K349

Predicted Effect

probably benign
Transcript: ENSMUST00000053661
AA Change: T215S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867
AA Change: T215S

Domain	Start	End	E-Value	Type
low complexity region	66	71	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
Pfam:AIG1	104	303	7.7e-73	PFAM
Pfam:MMR_HSR1	105	226	2.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119315

SMART Domains

Protein: ENSMUSP00000113918
Gene: ENSMUSG00000047867

Domain	Start	End	E-Value	Type
low complexity region	66	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126422

SMART Domains

Protein: ENSMUSP00000145325
Gene: ENSMUSG00000047867

Domain	Start	End	E-Value	Type
low complexity region	66	71	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (77/79)

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. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,259,014 (GRCm39)	L443P	probably damaging	Het
Abtb2	T	C	2: 103,397,292 (GRCm39)	V74A	probably benign	Het
Adam5	A	T	8: 25,305,541 (GRCm39)	F66I	probably benign	Het
Aff1	T	A	5: 103,981,413 (GRCm39)	D517E	probably benign	Het
Agbl3	A	G	6: 34,791,349 (GRCm39)	K559R	probably damaging	Het
Aldh1l2	A	C	10: 83,343,969 (GRCm39)	V482G	probably damaging	Het
Ankra2	C	T	13: 98,402,882 (GRCm39)	A43V	probably benign	Het
Ankrd50	C	A	3: 38,508,342 (GRCm39)	V419F	probably damaging	Het
Arhgef16	G	A	4: 154,375,763 (GRCm39)	T77M	probably damaging	Het
Best3	T	C	10: 116,840,290 (GRCm39)	V240A	probably damaging	Het
Btbd7	T	C	12: 102,779,027 (GRCm39)	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,157,550 (GRCm39)	V305E	probably damaging	Het
Cacng8	G	A	7: 3,463,621 (GRCm39)	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,670,696 (GRCm39)	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,556,652 (GRCm39)	V184E	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctdspl2	A	T	2: 121,837,362 (GRCm39)	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,527,468 (GRCm39)	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,172,307 (GRCm39)	F407L	probably damaging	Het
Dcp2	T	C	18: 44,529,019 (GRCm39)	F45L	probably damaging	Het
Dhx34	C	T	7: 15,950,364 (GRCm39)	R268H	probably benign	Het
Dnajc7	A	T	11: 100,482,377 (GRCm39)	M205K	probably benign	Het
Dzip3	C	T	16: 48,765,242 (GRCm39)	V491M	probably benign	Het
Farp1	T	C	14: 121,512,833 (GRCm39)	L777P	probably damaging	Het
Fchsd2	T	G	7: 100,927,863 (GRCm39)		probably null	Het
Fer1l6	A	T	15: 58,462,419 (GRCm39)		probably null	Het
Fhip1a	T	C	3: 85,580,069 (GRCm39)	D712G	probably benign	Het
Fitm2	A	G	2: 163,311,742 (GRCm39)	F157S	probably damaging	Het
Flt1	G	T	5: 147,540,379 (GRCm39)	A770E	probably damaging	Het
Flt3	T	A	5: 147,268,084 (GRCm39)	E967V	probably benign	Het
Foxc1	G	C	13: 31,992,361 (GRCm39)	A391P	unknown	Het
Foxc1	C	T	13: 31,992,362 (GRCm39)	A391V	unknown	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Itpr3	T	C	17: 27,340,028 (GRCm39)	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,380,635 (GRCm39)	Y601H	probably benign	Het
Map4	G	T	9: 109,856,865 (GRCm39)		probably null	Het
Mga	T	C	2: 119,733,527 (GRCm39)	M125T	probably damaging	Het
Mxi1	A	G	19: 53,360,091 (GRCm39)	D271G	probably damaging	Het
Ndst3	T	A	3: 123,465,310 (GRCm39)	T221S	possibly damaging	Het
Neto1	T	A	18: 86,516,813 (GRCm39)	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,161,555 (GRCm39)	E210G	probably damaging	Het
Nos2	G	T	11: 78,843,797 (GRCm39)	V915F	possibly damaging	Het
Nrros	G	A	16: 31,963,030 (GRCm39)	A329V	probably benign	Het
Numb	T	C	12: 83,850,578 (GRCm39)	K211E	probably benign	Het
Nup210	T	A	6: 90,995,874 (GRCm39)	I1671F	probably benign	Het
Or12j3	G	A	7: 139,953,050 (GRCm39)	L158F	possibly damaging	Het
Or4c106	T	A	2: 88,682,847 (GRCm39)	D184E	probably benign	Het
Or4c31	T	A	2: 88,291,691 (GRCm39)	H2Q	probably benign	Het
Pcdh15	A	T	10: 74,481,812 (GRCm39)	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,434,388 (GRCm39)	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,489,011 (GRCm39)	I230F	probably damaging	Het
Peli2	G	A	14: 48,488,015 (GRCm39)	V120I	probably benign	Het
Pramel15	T	A	4: 144,099,673 (GRCm39)	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,321,748 (GRCm39)	M96L	probably benign	Het
Prex2	T	A	1: 11,355,293 (GRCm39)	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,636,392 (GRCm39)	T138A	possibly damaging	Het
Psme4	C	T	11: 30,752,837 (GRCm39)	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,165,530 (GRCm39)		probably null	Het
Rps19	T	A	7: 24,589,190 (GRCm39)	*146K	probably null	Het
Rsu1	T	C	2: 13,082,371 (GRCm39)	N260S	probably benign	Het
Serpina3k	T	C	12: 104,311,594 (GRCm39)	C391R	not run	Het
Sipa1l1	T	G	12: 82,467,438 (GRCm39)		probably null	Het
Snd1	T	A	6: 28,626,126 (GRCm39)	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,374,831 (GRCm39)	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,863,278 (GRCm39)	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,795,146 (GRCm39)	K1535E	probably benign	Het
Srcin1	A	G	11: 97,425,435 (GRCm39)	S541P	probably damaging	Het
Tc2n	A	T	12: 101,631,934 (GRCm39)	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,090,475 (GRCm39)	D857G	probably benign	Het
Timm22	A	G	11: 76,298,134 (GRCm39)	D35G	probably benign	Het
Tram1l1	C	A	3: 124,114,889 (GRCm39)	H16Q	probably benign	Het
Uggt1	T	C	1: 36,190,814 (GRCm39)	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,879,379 (GRCm39)	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072 (GRCm39)	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,375,768 (GRCm39)	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,500,001 (GRCm39)	T196K	possibly damaging	Het
Xpo4	A	T	14: 57,835,436 (GRCm39)	H628Q	probably benign	Het
Zfp780b	C	T	7: 27,663,382 (GRCm39)	S391N	probably benign	Het

Other mutations in Gimap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Gimap6	APN	6	48,679,355 (GRCm39)	missense	possibly damaging	0.91
IGL00896:Gimap6	APN	6	48,679,394 (GRCm39)	missense	probably benign	0.12
IGL02126:Gimap6	APN	6	48,679,635 (GRCm39)	missense	probably damaging	1.00
IGL02450:Gimap6	APN	6	48,681,351 (GRCm39)	missense	probably benign	0.07
IGL02493:Gimap6	APN	6	48,679,603 (GRCm39)	missense	probably damaging	0.99
IGL02601:Gimap6	APN	6	48,679,409 (GRCm39)	missense	probably damaging	1.00
natural	UTSW	6	48,679,388 (GRCm39)	missense	probably damaging	0.99
N/A:Gimap6	UTSW	6	48,679,349 (GRCm39)	missense	probably damaging	0.99
PIT4515001:Gimap6	UTSW	6	48,679,502 (GRCm39)	missense	probably benign	0.00
PIT4519001:Gimap6	UTSW	6	48,684,995 (GRCm39)	missense	probably benign	0.06
R0066:Gimap6	UTSW	6	48,679,404 (GRCm39)	missense	probably damaging	1.00
R0066:Gimap6	UTSW	6	48,679,404 (GRCm39)	missense	probably damaging	1.00
R1594:Gimap6	UTSW	6	48,679,125 (GRCm39)	missense	probably benign	0.06
R2233:Gimap6	UTSW	6	48,681,418 (GRCm39)	missense	possibly damaging	0.92
R4982:Gimap6	UTSW	6	48,684,933 (GRCm39)	missense	probably benign	0.03
R5664:Gimap6	UTSW	6	48,679,209 (GRCm39)	missense	probably benign	0.01
R6235:Gimap6	UTSW	6	48,679,391 (GRCm39)	missense	probably benign	0.00
R7997:Gimap6	UTSW	6	48,679,249 (GRCm39)	missense	probably damaging	1.00
R8715:Gimap6	UTSW	6	48,679,552 (GRCm39)	missense	probably damaging	1.00
R8910:Gimap6	UTSW	6	48,679,388 (GRCm39)	missense	probably damaging	0.99
R9638:Gimap6	UTSW	6	48,679,424 (GRCm39)	missense	probably benign	0.00
R9699:Gimap6	UTSW	6	48,684,951 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AGTTTCTTCAACTGGGCCTC -3'
(R):5'- TGACCACGACATTCCAGAAAGG -3'

Sequencing Primer
(F):5'- GGCCTCCTGCTCATCCC -3'
(R):5'- CACGACATTCCAGAAAGGGACTAG -3'

Posted On

2019-10-07