Mutagenetix > Incidental Mutation

Incidental Mutation 'R7505:Gask1a'

581734

Institutional Source

Beutler Lab

Gene Symbol

Gask1a

Ensembl Gene

ENSMUSG00000038233

Gene Name

golgi associated kinase 1A

Synonyms

C730027P07Rik, Fam198a

MMRRC Submission

045578-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121780054-121809275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 121805483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 425 (G425R)

Ref Sequence

ENSEMBL: ENSMUSP00000040221 (fasta)

Gene Model

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

AlphaFold

Q3UY90

Predicted Effect

probably benign
Transcript: ENSMUST00000043011
AA Change: G425R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233
AA Change: G425R

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
AA Change: G425R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000214536
AA Change: G425R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000215990
AA Change: G425R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,033,260 (GRCm39)	N719Y	possibly damaging	Het
Adamts2	T	C	11: 50,687,347 (GRCm39)	I1058T	probably benign	Het
Alb	T	A	5: 90,617,368 (GRCm39)	Y356N	probably damaging	Het
Ankrd52	A	G	10: 128,225,924 (GRCm39)	N971D	probably damaging	Het
Atp6v1c2	A	G	12: 17,347,724 (GRCm39)		probably null	Het
Atp6v1h	A	T	1: 5,194,561 (GRCm39)	I247L	probably benign	Het
Cacna1s	C	T	1: 136,013,187 (GRCm39)	R593*	probably null	Het
Cacna2d3	C	T	14: 28,767,501 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,575,231 (GRCm39)	G2D	probably benign	Het
Cebpe	G	T	14: 54,948,113 (GRCm39)	N243K	probably damaging	Het
Celf2	A	T	2: 6,629,511 (GRCm39)	M136K	probably damaging	Het
Cep290	A	G	10: 100,352,127 (GRCm39)	I778V	probably benign	Het
Col22a1	A	T	15: 71,671,248 (GRCm39)	C1592*	probably null	Het
Cpne2	A	T	8: 95,275,094 (GRCm39)	N34I	possibly damaging	Het
Cps1	A	G	1: 67,219,240 (GRCm39)	N860S	probably benign	Het
Disp2	T	G	2: 118,621,569 (GRCm39)	L767R	probably damaging	Het
Eif1ad19	A	T	12: 87,740,270 (GRCm39)	N96K	probably benign	Het
Evpl	A	G	11: 116,117,813 (GRCm39)		probably null	Het
F7	A	T	8: 13,078,745 (GRCm39)	N59Y	possibly damaging	Het
Fam98a	A	T	17: 75,845,233 (GRCm39)	H504Q	unknown	Het
Fbxo4	G	A	15: 4,000,903 (GRCm39)	R270C	probably benign	Het
Fcgbp	T	C	7: 27,789,099 (GRCm39)	V555A	probably damaging	Het
Fgf4	T	C	7: 144,415,498 (GRCm39)	V86A	possibly damaging	Het
Fpgt	G	T	3: 154,792,413 (GRCm39)	A538D	possibly damaging	Het
Gars1	A	G	6: 55,029,162 (GRCm39)	T181A	probably benign	Het
Gbx2	A	G	1: 89,856,455 (GRCm39)	S312P	probably benign	Het
Gm29735	C	T	7: 141,710,327 (GRCm39)	C175Y	unknown	Het
Gm7995	A	G	14: 42,132,314 (GRCm39)	T49A		Het
Hnrnpk	A	G	13: 58,547,783 (GRCm39)	M27T	probably benign	Het
Idh3b	A	G	2: 130,126,147 (GRCm39)	S20P	probably benign	Het
Idh3b	G	C	2: 130,126,153 (GRCm39)	R18G	probably benign	Het
Ighg2b	T	A	12: 113,268,600 (GRCm39)	T354S		Het
Lrfn2	T	A	17: 49,403,479 (GRCm39)	M534K	probably benign	Het
Mcpt8	G	A	14: 56,320,548 (GRCm39)	A127V	probably benign	Het
Msi2	A	T	11: 88,304,743 (GRCm39)	N176K	possibly damaging	Het
Mtr	G	T	13: 12,236,362 (GRCm39)	D621E	probably benign	Het
Nlrp5	T	A	7: 23,106,925 (GRCm39)	I63N	probably benign	Het
Nol6	T	C	4: 41,120,352 (GRCm39)	D455G	probably damaging	Het
Nrde2	A	T	12: 100,098,757 (GRCm39)	S637T	probably benign	Het
Ntn4	G	T	10: 93,543,146 (GRCm39)	G291W	probably damaging	Het
Or13a28	C	A	7: 140,217,965 (GRCm39)	T117K	probably damaging	Het
Or4d10	T	A	19: 12,051,969 (GRCm39)	E9V	possibly damaging	Het
Otof	T	A	5: 30,528,364 (GRCm39)	T1865S	probably benign	Het
Plec	A	T	15: 76,065,394 (GRCm39)	S1559T	unknown	Het
Plekhm1	C	T	11: 103,270,855 (GRCm39)		probably null	Het
Plin4	T	A	17: 56,416,357 (GRCm39)	Q49L	possibly damaging	Het
Polrmt	A	G	10: 79,573,717 (GRCm39)	F995L	probably benign	Het
Polrmt	A	G	10: 79,579,010 (GRCm39)		probably null	Het
Pramel16	A	G	4: 143,676,273 (GRCm39)	I277T	possibly damaging	Het
Pramel28	C	T	4: 143,691,556 (GRCm39)	C389Y	probably benign	Het
Rims1	T	C	1: 22,573,077 (GRCm39)	T375A	possibly damaging	Het
Ryr3	A	T	2: 112,542,774 (GRCm39)	M3145K	probably damaging	Het
S100a11	A	G	3: 93,433,339 (GRCm39)	K61R	probably benign	Het
Sar1a	A	G	10: 61,527,073 (GRCm39)	T164A	probably benign	Het
Sec31b	C	T	19: 44,532,146 (GRCm39)	A25T	probably damaging	Het
Smpd2	A	G	10: 41,363,350 (GRCm39)	V371A	probably benign	Het
Speer1g	T	A	5: 11,181,135 (GRCm39)	Y141N	possibly damaging	Het
Spg11	A	T	2: 121,905,832 (GRCm39)	L1271*	probably null	Het
Svep1	T	C	4: 58,115,862 (GRCm39)	T944A	possibly damaging	Het
Taf6	A	T	5: 138,178,207 (GRCm39)	C431*	probably null	Het
Tdrd6	A	G	17: 43,938,570 (GRCm39)	V826A	not run	Het
Tent4a	G	T	13: 69,655,047 (GRCm39)	P476T	probably damaging	Het
Tmem132a	A	G	19: 10,836,037 (GRCm39)	V831A	probably damaging	Het
Tnfrsf8	T	G	4: 144,995,685 (GRCm39)	D458A	probably damaging	Het
Trpv5	A	G	6: 41,651,590 (GRCm39)	I196T	probably damaging	Het
Ttn	T	A	2: 76,608,898 (GRCm39)	D17706V	probably damaging	Het
Uimc1	T	C	13: 55,223,444 (GRCm39)	Y276C	probably damaging	Het
Usp24	T	A	4: 106,236,276 (GRCm39)	I988K	probably damaging	Het
Vmn2r74	T	A	7: 85,606,279 (GRCm39)	R356*	probably null	Het
Wdr37	A	T	13: 8,869,971 (GRCm39)	H429Q	probably damaging	Het
Wwc2	A	T	8: 48,333,185 (GRCm39)	L277Q	probably damaging	Het
Zscan12	T	A	13: 21,552,756 (GRCm39)	N193K	possibly damaging	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
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'- GCCTTAGCAGAGGAATTAGCTGG -3'
(R):5'- TGCATACATGTACACAGGGG -3'

Sequencing Primer
(F):5'- AGCTTATTGGCACTGACAGC -3'
(R):5'- GGGGAGAAGATTGGGAGCCC -3'

Posted On

2019-10-17