Mutagenetix > Incidental Mutation

Incidental Mutation 'R7045:Gask1a'

547258

Institutional Source

Beutler Lab

Gene Symbol

Gask1a

Ensembl Gene

ENSMUSG00000038233

Gene Name

golgi associated kinase 1A

Synonyms

C730027P07Rik, Fam198a

Accession Numbers

Essential gene?

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

Stock #

R7045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121780054-121809275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121794707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 287 (L287P)

Ref Sequence

ENSEMBL: ENSMUSP00000149755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043011] [ENSMUST00000213773] [ENSMUST00000214536] [ENSMUST00000215990]

AlphaFold

Q3UY90

Predicted Effect

probably damaging
Transcript: ENSMUST00000043011
AA Change: L287P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233
AA Change: L287P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	183	194	N/A	INTRINSIC
Pfam:FAM198	220	544	1.3e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213773
AA Change: L287P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214536
AA Change: L287P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215990
AA Change: L287P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	A	T	12: 112,628,735 (GRCm39)	Y18*	probably null	Het
Ank2	C	A	3: 126,806,393 (GRCm39)	A583S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,546 (GRCm39)	V518A	possibly damaging	Het
Atp8b4	T	C	2: 126,214,115 (GRCm39)	N706S	probably benign	Het
Bace2	A	G	16: 97,200,865 (GRCm39)	N111S	probably damaging	Het
Cnp	A	T	11: 100,471,184 (GRCm39)	R275S	probably benign	Het
Cs	T	A	10: 128,188,586 (GRCm39)	M104K	probably benign	Het
Ctcfl	G	A	2: 172,954,167 (GRCm39)	T310I	probably damaging	Het
Cyp2d40	T	C	15: 82,645,763 (GRCm39)	I81V	probably benign	Het
Ddx19a	A	G	8: 111,719,706 (GRCm39)	V30A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dock6	G	A	9: 21,733,107 (GRCm39)	A1062V	probably damaging	Het
Dpysl2	T	C	14: 67,067,395 (GRCm39)	D172G	probably benign	Het
Eml2	A	G	7: 18,935,504 (GRCm39)	D638G	probably damaging	Het
Epb41l4b	C	A	4: 57,103,522 (GRCm39)	A105S	possibly damaging	Het
Fat4	A	G	3: 38,942,750 (GRCm39)	I548V	probably benign	Het
Gabrb2	G	A	11: 42,484,758 (GRCm39)	A272T	probably damaging	Het
Hcn1	C	T	13: 118,111,998 (GRCm39)	P654L	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,122,349 (GRCm39)	G477C	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kiss1r	A	G	10: 79,755,259 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Loxl4	G	T	19: 42,595,074 (GRCm39)	N200K	probably damaging	Het
Lrba	T	C	3: 86,192,398 (GRCm39)	V104A	probably benign	Het
Lyst	T	A	13: 13,812,293 (GRCm39)	C902S	probably damaging	Het
Lyst	T	A	13: 13,809,485 (GRCm39)	V385D	probably benign	Het
Mrpl28	T	C	17: 26,345,261 (GRCm39)	F227S	probably benign	Het
Mtmr3	A	T	11: 4,448,896 (GRCm39)	V289E	possibly damaging	Het
Ndst3	A	G	3: 123,465,732 (GRCm39)	V80A	probably damaging	Het
Nid2	C	T	14: 19,829,749 (GRCm39)	A680V	possibly damaging	Het
Nudcd1	T	C	15: 44,269,226 (GRCm39)	N145D	probably benign	Het
Nup210	A	T	6: 91,031,433 (GRCm39)	I812N	probably damaging	Het
Or2ak6	A	T	11: 58,592,495 (GRCm39)		probably benign	Het
Or2g7	C	T	17: 38,378,862 (GRCm39)	H267Y	probably benign	Het
Or2y17	A	T	11: 49,231,757 (GRCm39)	T133S	probably damaging	Het
Or52n4b	A	G	7: 108,144,452 (GRCm39)	K238R	probably damaging	Het
Or5b114-ps1	C	A	19: 13,352,336 (GRCm39)	N3K	probably damaging	Het
Or8c11	T	A	9: 38,289,729 (GRCm39)	M184K	probably damaging	Het
Or8k16	A	G	2: 85,520,255 (GRCm39)	S161G	possibly damaging	Het
Pcdhb6	A	C	18: 37,469,329 (GRCm39)	Q750P	possibly damaging	Het
Plppr4	T	C	3: 117,153,683 (GRCm39)	Y72C	probably damaging	Het
Rasgrf2	G	T	13: 92,159,100 (GRCm39)		probably benign	Het
Sbk2	A	G	7: 4,961,905 (GRCm39)	I127T	probably damaging	Het
Smchd1	A	C	17: 71,722,039 (GRCm39)	S817A	probably benign	Het
Speer4b	A	T	5: 27,705,123 (GRCm39)	N83K	probably damaging	Het
Strc	A	T	2: 121,201,207 (GRCm39)	L1296Q	probably damaging	Het
Thap11	C	A	8: 106,582,215 (GRCm39)	R75S	possibly damaging	Het
Unc13a	A	C	8: 72,111,407 (GRCm39)	L268R	possibly damaging	Het
Zfp39	A	T	11: 58,781,269 (GRCm39)	C498S	unknown	Het
Zfp507	T	C	7: 35,494,978 (GRCm39)	T22A	possibly damaging	Het
Zfp85	T	C	13: 67,897,712 (GRCm39)	Y120C	probably benign	Het
Zfp882	G	A	8: 72,667,093 (GRCm39)		probably null	Het

Other mutations in Gask1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Gask1a	APN	9	121,807,401 (GRCm39)	missense	probably damaging	1.00
IGL01722:Gask1a	APN	9	121,794,149 (GRCm39)	missense	possibly damaging	0.92
IGL02733:Gask1a	APN	9	121,794,094 (GRCm39)	missense	probably benign	0.00
R0514:Gask1a	UTSW	9	121,807,418 (GRCm39)	missense	possibly damaging	0.62
R1344:Gask1a	UTSW	9	121,807,452 (GRCm39)	missense	probably damaging	0.98
R1868:Gask1a	UTSW	9	121,794,493 (GRCm39)	missense	possibly damaging	0.71
R2279:Gask1a	UTSW	9	121,794,668 (GRCm39)	missense	probably benign	0.00
R3237:Gask1a	UTSW	9	121,793,935 (GRCm39)	missense	possibly damaging	0.83
R3753:Gask1a	UTSW	9	121,794,899 (GRCm39)	missense	probably damaging	1.00
R4967:Gask1a	UTSW	9	121,794,784 (GRCm39)	missense	probably damaging	1.00
R5192:Gask1a	UTSW	9	121,794,727 (GRCm39)	missense	probably benign
R5196:Gask1a	UTSW	9	121,794,727 (GRCm39)	missense	probably benign
R5560:Gask1a	UTSW	9	121,807,289 (GRCm39)	missense	possibly damaging	0.94
R5588:Gask1a	UTSW	9	121,794,247 (GRCm39)	nonsense	probably null
R5689:Gask1a	UTSW	9	121,794,754 (GRCm39)	missense	probably damaging	1.00
R7017:Gask1a	UTSW	9	121,795,052 (GRCm39)	critical splice donor site	probably null
R7037:Gask1a	UTSW	9	121,794,592 (GRCm39)	missense	possibly damaging	0.61
R7041:Gask1a	UTSW	9	121,794,467 (GRCm39)	missense	probably damaging	0.98
R7170:Gask1a	UTSW	9	121,807,301 (GRCm39)	missense	probably damaging	1.00
R7505:Gask1a	UTSW	9	121,805,483 (GRCm39)	missense	probably benign	0.00
R7704:Gask1a	UTSW	9	121,780,151 (GRCm39)	start gained	probably benign
R7751:Gask1a	UTSW	9	121,793,887 (GRCm39)	missense	probably benign	0.01
R9655:Gask1a	UTSW	9	121,794,170 (GRCm39)	missense	probably benign	0.09
R9763:Gask1a	UTSW	9	121,805,421 (GRCm39)	missense	probably damaging	1.00
V1662:Gask1a	UTSW	9	121,794,091 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCAGGTTCCACCATGGTTCATG -3'
(R):5'- AGAGAGTTCTGGTCCTCATCTG -3'

Sequencing Primer
(F):5'- TGGAACATGATGCACAAACTCTC -3'
(R):5'- TTAGGTGCTGCACATCCG -3'

Posted On

2019-05-13