Mutagenetix > Incidental Mutation

Incidental Mutation 'R7704:Gask1a'

594191

Institutional Source

Beutler Lab

Gene Symbol

Gask1a

Ensembl Gene

ENSMUSG00000038233

Gene Name

golgi associated kinase 1A

Synonyms

C730027P07Rik, Fam198a

MMRRC Submission

045765-MU

Accession Numbers

Essential gene?

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

Stock #

R7704 (G1)

Quality Score

88.0076

Status

Not validated

Chromosome

Chromosomal Location

121780054-121809275 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 121780151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149755 (fasta)

Gene Model

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

AlphaFold

Q3UY90

Predicted Effect

probably benign
Transcript: ENSMUST00000043011

SMART Domains

Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233

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 benign
Transcript: ENSMUST00000213773

Predicted Effect

probably benign
Transcript: ENSMUST00000214536

Predicted Effect

probably benign
Transcript: ENSMUST00000215990

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,756,068 (GRCm39)	W1458L	probably damaging	Het
Actn4	A	T	7: 28,596,467 (GRCm39)	I676N	possibly damaging	Het
Adamts10	T	C	17: 33,770,126 (GRCm39)	C1002R	probably damaging	Het
Agbl2	A	C	2: 90,619,349 (GRCm39)	N58T	probably benign	Het
Akap12	A	T	10: 4,306,082 (GRCm39)	D1069V	probably damaging	Het
Bltp2	C	A	11: 78,159,570 (GRCm39)	Q540K	probably benign	Het
Cfap65	T	A	1: 74,967,527 (GRCm39)	T184S	probably benign	Het
Chd1	T	C	17: 15,987,737 (GRCm39)	V1517A	probably benign	Het
CN725425	T	A	15: 91,119,993 (GRCm39)	V38D	possibly damaging	Het
Copg1	T	A	6: 87,884,940 (GRCm39)	L712Q	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Ddx21	T	C	10: 62,429,865 (GRCm39)	Y293C	probably damaging	Het
Ddx46	C	T	13: 55,821,832 (GRCm39)	P839S	probably benign	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dync1h1	T	A	12: 110,632,200 (GRCm39)	I4490N	probably damaging	Het
Ecm1	A	C	3: 95,643,843 (GRCm39)	Y236D	probably damaging	Het
Fat2	T	C	11: 55,175,173 (GRCm39)	T1847A	probably benign	Het
Galc	T	A	12: 98,175,102 (GRCm39)	I567L	probably benign	Het
H6pd	T	C	4: 150,067,360 (GRCm39)	D350G	probably benign	Het
Ifi44	A	G	3: 151,438,061 (GRCm39)	Y409H	probably benign	Het
Kdm5a	T	G	6: 120,404,025 (GRCm39)	F1210C	probably damaging	Het
Kdm5b	C	T	1: 134,515,669 (GRCm39)	R98C	probably damaging	Het
Lipt1	T	A	1: 37,915,043 (GRCm39)	C366*	probably null	Het
Med13	G	A	11: 86,236,744 (GRCm39)	R138*	probably null	Het
Mterf1a	A	G	5: 3,941,845 (GRCm39)	C8R	probably benign	Het
Ncapg2	A	T	12: 116,382,897 (GRCm39)	I243F	probably damaging	Het
Nop58	T	C	1: 59,744,754 (GRCm39)	S304P	probably damaging	Het
Nsd2	T	C	5: 34,028,811 (GRCm39)	*167Q	probably null	Het
Or1e30	T	G	11: 73,678,616 (GRCm39)	M284R	probably damaging	Het
Or2t35	T	A	14: 14,407,867 (GRCm38)	I213N	probably damaging	Het
Or52ab2	T	A	7: 102,969,978 (GRCm39)	M120K		Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prdm16	C	T	4: 154,425,947 (GRCm39)	G613R	probably damaging	Het
Prss46	T	C	9: 110,679,065 (GRCm39)	S89P	probably damaging	Het
Scin	T	C	12: 40,174,687 (GRCm39)	N132S	possibly damaging	Het
Sec14l2	T	C	11: 4,058,574 (GRCm39)	K196R	probably benign	Het
Sox17	C	A	1: 4,563,895 (GRCm39)		probably benign	Het
Tango6	A	G	8: 107,425,621 (GRCm39)	T394A	probably benign	Het
Tbc1d22a	T	A	15: 86,250,876 (GRCm39)	I398N	probably damaging	Het
Tdpoz8	A	G	3: 92,981,752 (GRCm39)	I183V	probably benign	Het
Tmem8b	T	C	4: 43,689,461 (GRCm39)	V285A	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,497 (GRCm39)	T35S	probably benign	Het
Unc13c	T	A	9: 73,606,494 (GRCm39)	I1289F	probably benign	Het
Ust	C	T	10: 8,205,987 (GRCm39)	V99I	probably benign	Het
Vmn1r76	A	G	7: 11,664,344 (GRCm39)	V290A	probably benign	Het
Vmn2r50	T	C	7: 9,781,665 (GRCm39)	N360S	probably benign	Het
Vmn2r93	T	C	17: 18,536,910 (GRCm39)	I531T	probably benign	Het
Zap70	T	C	1: 36,818,395 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,630 (GRCm39)	N443D	probably benign	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
R7045:Gask1a	UTSW	9	121,794,707 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCTTCCTAGCACCAGAGAC -3'
(R):5'- AACTCATGCGAGGCTTCAAG -3'

Sequencing Primer
(F):5'- ACTCCAGGCAGCTTCTGTTGG -3'
(R):5'- CTGTTCAGCAGCTCCTACCATG -3'

Posted On

2019-11-12