Mutagenetix > Incidental Mutation

Incidental Mutation 'R5266:Gask1b'

401687

Institutional Source

Beutler Lab

Gene Symbol

Gask1b

Ensembl Gene

ENSMUSG00000027955

Gene Name

golgi associated kinase 1B

Synonyms

Ened, 2210419I08Rik, Fam198b, 1110032E23Rik

MMRRC Submission

042858-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79791840-79853587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79843910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 12 (N12K)

Ref Sequence

ENSEMBL: ENSMUSP00000120603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029567] [ENSMUST00000118853] [ENSMUST00000145992]

AlphaFold

Q3UPI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029567
AA Change: N376K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: N376K

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
Pfam:FAM198	202	516	9.1e-156	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118853
AA Change: N376K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: N376K

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
Pfam:FAM198	202	516	1.1e-155	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000145992
AA Change: N12K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120603
Gene: ENSMUSG00000027955
AA Change: N12K

Domain	Start	End	E-Value	Type
Pfam:FAM198	1	51	5.4e-27	PFAM

Meta Mutation Damage Score

0.0958

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,591,455 (GRCm39)	N457S	probably damaging	Het
Asic4	G	A	1: 75,427,567 (GRCm39)	G31E	probably benign	Het
Atp2a3	A	G	11: 72,866,223 (GRCm39)	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,795 (GRCm39)	D387G	probably benign	Het
Bdp1	T	C	13: 100,204,043 (GRCm39)	M660V	probably benign	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Cfap54	T	G	10: 92,651,764 (GRCm39)	K3095N	probably benign	Het
Chl1	A	G	6: 103,677,504 (GRCm39)	N706S	probably damaging	Het
Crym	A	G	7: 119,798,517 (GRCm39)	V113A	probably benign	Het
Cux1	A	G	5: 136,341,548 (GRCm39)	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,731,207 (GRCm39)	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elac1	A	G	18: 73,875,740 (GRCm39)	V97A	probably benign	Het
Erbb3	G	A	10: 128,405,505 (GRCm39)	T1251M	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hydin	A	G	8: 111,061,416 (GRCm39)	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Lyst	T	C	13: 13,835,555 (GRCm39)	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,750,622 (GRCm39)	N613K	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mrm1	A	T	11: 84,710,086 (GRCm39)	L38Q	possibly damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Ndst2	G	A	14: 20,774,555 (GRCm39)	R834W	probably damaging	Het
Opa1	T	A	16: 29,436,948 (GRCm39)	I637N	probably benign	Het
Or52h9	A	T	7: 104,203,026 (GRCm39)	Q300L	probably benign	Het
Or5d43	T	C	2: 88,104,565 (GRCm39)	Y276C	possibly damaging	Het
Padi4	A	G	4: 140,473,442 (GRCm39)	V665A	possibly damaging	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pkp3	A	G	7: 140,663,190 (GRCm39)	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,740,918 (GRCm39)	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860 (GRCm39)	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,448,876 (GRCm39)	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,123,309 (GRCm39)	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,801,818 (GRCm39)	T109A	probably damaging	Het
Rexo5	C	A	7: 119,443,660 (GRCm39)	H690Q	probably benign	Het
Scube2	C	T	7: 109,408,437 (GRCm39)	G670D	probably damaging	Het
Sipa1l2	T	C	8: 126,218,865 (GRCm39)	I157M	probably damaging	Het
Slbp	A	T	5: 33,801,210 (GRCm39)	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stk36	T	C	1: 74,650,317 (GRCm39)	V283A	probably benign	Het
Tead1	A	G	7: 112,358,673 (GRCm39)		probably benign	Het
Tecpr2	G	C	12: 110,881,836 (GRCm39)	W135S	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,279,701 (GRCm39)	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,083,328 (GRCm39)	T11S	probably benign	Het
Vnn1	G	A	10: 23,779,303 (GRCm39)	C404Y	probably damaging	Het
Wdr41	T	C	13: 95,131,759 (GRCm39)	F57L	probably damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Zfp985	A	T	4: 147,667,289 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,962,865 (GRCm39)	S176P	probably benign	Het

Other mutations in Gask1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02952:Gask1b	APN	3	79,793,646 (GRCm39)	missense	probably damaging	1.00
P0015:Gask1b	UTSW	3	79,843,915 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Gask1b	UTSW	3	79,794,246 (GRCm39)	missense	possibly damaging	0.78
R1519:Gask1b	UTSW	3	79,848,771 (GRCm39)	missense	possibly damaging	0.88
R1723:Gask1b	UTSW	3	79,843,970 (GRCm39)	missense	probably benign
R1782:Gask1b	UTSW	3	79,793,838 (GRCm39)	missense	possibly damaging	0.85
R3040:Gask1b	UTSW	3	79,794,432 (GRCm39)	missense	possibly damaging	0.95
R3840:Gask1b	UTSW	3	79,815,897 (GRCm39)	missense	probably benign	0.32
R4841:Gask1b	UTSW	3	79,843,912 (GRCm39)	missense	probably damaging	1.00
R4842:Gask1b	UTSW	3	79,843,912 (GRCm39)	missense	probably damaging	1.00
R4860:Gask1b	UTSW	3	79,843,981 (GRCm39)	nonsense	probably null
R4860:Gask1b	UTSW	3	79,843,981 (GRCm39)	nonsense	probably null
R5181:Gask1b	UTSW	3	79,793,618 (GRCm39)	missense	probably benign	0.08
R6353:Gask1b	UTSW	3	79,848,647 (GRCm39)	missense	probably damaging	1.00
R6698:Gask1b	UTSW	3	79,843,902 (GRCm39)	missense	probably damaging	0.97
R6856:Gask1b	UTSW	3	79,793,448 (GRCm39)	intron	probably benign
R6927:Gask1b	UTSW	3	79,848,769 (GRCm39)	missense	probably damaging	1.00
R7025:Gask1b	UTSW	3	79,793,855 (GRCm39)	missense	probably damaging	1.00
R7189:Gask1b	UTSW	3	79,794,114 (GRCm39)	nonsense	probably null
R7434:Gask1b	UTSW	3	79,848,669 (GRCm39)	missense	probably damaging	1.00
R7557:Gask1b	UTSW	3	79,793,915 (GRCm39)	nonsense	probably null
R7780:Gask1b	UTSW	3	79,848,711 (GRCm39)	missense	probably damaging	1.00
R7891:Gask1b	UTSW	3	79,793,591 (GRCm39)	missense	probably benign	0.00
R8812:Gask1b	UTSW	3	79,816,078 (GRCm39)	missense	possibly damaging	0.82
R8841:Gask1b	UTSW	3	79,794,426 (GRCm39)	missense	probably benign	0.08
R8960:Gask1b	UTSW	3	79,794,293 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGAGGGCTTTGAACTACG -3'
(R):5'- ACTCTCGGATGCCTTCTAACAAC -3'

Sequencing Primer
(F):5'- ACGGACTTATTCTAGCAGCTG -3'
(R):5'- CTCGGATGCCTTCTAACAACTTAAAG -3'

Posted On

2016-07-06