Mutagenetix > Incidental Mutation

Incidental Mutation 'R3840:Gask1b'

277102

Institutional Source

Beutler Lab

Gene Symbol

Gask1b

Ensembl Gene

ENSMUSG00000027955

Gene Name

golgi associated kinase 1B

Synonyms

Ened, 2210419I08Rik, Fam198b, 1110032E23Rik

MMRRC Submission

040780-MU

Accession Numbers

Essential gene?

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

Stock #

R3840 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79791840-79853587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79815897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 302 (D302E)

Ref Sequence

ENSEMBL: ENSMUSP00000114093 (fasta)

Gene Model

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

AlphaFold

Q3UPI1

Predicted Effect

probably benign
Transcript: ENSMUST00000029567
AA Change: D302E

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: D302E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118853
AA Change: D302E

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: D302E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145992

SMART Domains

Protein: ENSMUSP00000120603
Gene: ENSMUSG00000027955

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,104 (GRCm39)	K11N	probably benign	Het
Abcc8	A	G	7: 45,757,524 (GRCm39)	I1375T	possibly damaging	Het
Ate1	A	T	7: 130,117,867 (GRCm39)	D39E	probably damaging	Het
BC035947	G	T	1: 78,474,482 (GRCm39)	N683K	probably benign	Het
Cdca2	A	T	14: 67,917,720 (GRCm39)	Y559*	probably null	Het
Cmya5	A	G	13: 93,231,140 (GRCm39)	V1316A	probably damaging	Het
Cntnap5b	C	T	1: 100,311,202 (GRCm39)	T936I	possibly damaging	Het
Col6a5	T	C	9: 105,805,810 (GRCm39)	N1032S	unknown	Het
Cracd	A	T	5: 77,006,858 (GRCm39)	Q1073L	unknown	Het
Epc2	A	G	2: 49,378,750 (GRCm39)	K68R	probably damaging	Het
Erbb3	A	T	10: 128,406,193 (GRCm39)	F1075I	probably benign	Het
F11r	G	T	1: 171,288,457 (GRCm39)	R100L	probably damaging	Het
Fam171b	C	A	2: 83,710,406 (GRCm39)	Q693K	possibly damaging	Het
Fam83c	C	T	2: 155,676,668 (GRCm39)	R34H	probably benign	Het
Fmn2	GAAGA	GAAGAAAGA	1: 174,409,599 (GRCm39)		probably null	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Hsph1	T	A	5: 149,544,180 (GRCm39)		probably null	Het
Jhy	T	A	9: 40,856,142 (GRCm39)	E115V	probably benign	Het
Kcnu1	G	T	8: 26,375,380 (GRCm39)	V365L	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,537 (GRCm39)	T388A	probably damaging	Het
Mastl	T	C	2: 23,030,563 (GRCm39)	D202G	probably damaging	Het
Medag	T	A	5: 149,350,888 (GRCm39)	I121N	probably damaging	Het
Mideas	T	C	12: 84,218,383 (GRCm39)	R526G	probably damaging	Het
Mocos	C	T	18: 24,809,681 (GRCm39)	A428V	probably damaging	Het
Mok	C	T	12: 110,781,591 (GRCm39)	V59M	probably benign	Het
Neb	C	A	2: 52,097,672 (GRCm39)		probably null	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or10al7	A	G	17: 38,366,239 (GRCm39)	S73P	probably damaging	Het
Or52s1	G	A	7: 102,861,900 (GRCm39)	G267R	probably damaging	Het
Otud1	G	T	2: 19,663,554 (GRCm39)	E228*	probably null	Het
Pcdhga11	A	T	18: 37,890,602 (GRCm39)	N537Y	probably damaging	Het
Pkd1l1	T	C	11: 8,839,050 (GRCm39)	Y878C	probably damaging	Het
Podxl	C	T	6: 31,500,016 (GRCm39)	V485I	probably damaging	Het
Psmd12	T	C	11: 107,376,398 (GRCm39)	I44T	probably benign	Het
Rap1gap	T	C	4: 137,444,758 (GRCm39)	F182S	probably damaging	Het
Slc22a13	T	C	9: 119,037,855 (GRCm39)	D91G	probably benign	Het
Slc4a11	A	G	2: 130,529,974 (GRCm39)	F268S	probably damaging	Het
Snap91	C	T	9: 86,721,618 (GRCm39)	V74M	probably damaging	Het
Tmem87b	T	A	2: 128,668,304 (GRCm39)	L150*	probably null	Het
Tmprss7	T	A	16: 45,481,195 (GRCm39)	R664*	probably null	Het
Tnfrsf11b	T	A	15: 54,115,478 (GRCm39)	H373L	probably damaging	Het
Tnfrsf23	A	G	7: 143,235,266 (GRCm39)	S33P	probably benign	Het
Tro	A	G	X: 149,429,198 (GRCm39)		probably benign	Het
Tulp1	A	G	17: 28,572,689 (GRCm39)	V489A	probably damaging	Het
Wac	C	A	18: 7,918,535 (GRCm39)	P416H	probably damaging	Het
Zap70	T	A	1: 36,817,498 (GRCm39)	I247N	probably damaging	Het
Zfp617	G	A	8: 72,685,961 (GRCm39)	G97E	probably damaging	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
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
R5266:Gask1b	UTSW	3	79,843,910 (GRCm39)	missense	probably damaging	0.96
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'- TAAGACTTATAACTGACCAGGAGTG -3'
(R):5'- AGAGAGCCATCTTGGACCAC -3'

Sequencing Primer
(F):5'- AGGGACCTTGGAATTTGG -3'
(R):5'- AGCCATCTTGGACCACTCGTG -3'

Posted On

2015-04-06