Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Gimap6'

555108

Institutional Source

Beutler Lab

Gene Symbol

Gimap6

Ensembl Gene

ENSMUSG00000047867

Gene Name

GTPase, IMAP family member 6

Synonyms

4833419H03Rik, Ian6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48678516-48685159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48684995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 30 (R30S)

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: R30S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867
AA Change: R30S

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

possibly damaging
Transcript: ENSMUST00000119315
AA Change: R30S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113918
Gene: ENSMUSG00000047867
AA Change: R30S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126422
AA Change: R30S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145325
Gene: ENSMUSG00000047867
AA Change: R30S

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

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

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. 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Alx4	T	A	2: 93,505,773 (GRCm39)	C292S	probably benign	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Coil	C	T	11: 88,863,552 (GRCm39)		probably benign	Het
Col6a6	G	A	9: 105,609,462 (GRCm39)	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Fgg	A	T	3: 82,920,246 (GRCm39)	N342Y	probably damaging	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Scrn3	T	C	2: 73,148,768 (GRCm39)	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,161,347 (GRCm39)	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Taf1b	T	A	12: 24,597,118 (GRCm39)	Y352*	probably null	Het
Tas2r120	T	A	6: 132,634,297 (GRCm39)	N126K	probably benign	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	probably damaging	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
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
R7469:Gimap6	UTSW	6	48,679,392 (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'- ATGTGCCTGTCAGTACACAAAC -3'
(R):5'- TTTCTCATTGCACAGCGAGC -3'

Sequencing Primer
(F):5'- GCCTGTCAGTACACAAACATACATAC -3'
(R):5'- CGAGCTGCTATTTTGAAGGACAG -3'

Posted On

2019-06-07