Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Stk32a'

616381

Institutional Source

Beutler Lab

Gene Symbol

Stk32a

Ensembl Gene

ENSMUSG00000039954

Gene Name

serine/threonine kinase 32A

Synonyms

YANK1, A930015B13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43207697-43317481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43315144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 396 (N396I)

Ref Sequence

ENSEMBL: ENSMUSP00000038471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045477]

AlphaFold

Q8BGW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045477
AA Change: N396I

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038471
Gene: ENSMUSG00000039954
AA Change: N396I

Domain	Start	End	E-Value	Type
S_TKc	23	281	9.58e-85	SMART
low complexity region	318	339	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	probably benign	Het

Other mutations in Stk32a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Stk32a	APN	18	43310445	missense	possibly damaging	0.46
IGL00704:Stk32a	APN	18	43261249	missense	probably damaging	1.00
IGL00813:Stk32a	APN	18	43310520	missense	probably benign	0.10
IGL02121:Stk32a	APN	18	43313507	missense	probably benign
IGL02407:Stk32a	APN	18	43297511	missense	probably benign	0.00
IGL02957:Stk32a	APN	18	43311992	missense	probably benign
R0004:Stk32a	UTSW	18	43305056	missense	probably damaging	1.00
R0047:Stk32a	UTSW	18	43313378	splice site	probably benign
R0047:Stk32a	UTSW	18	43313378	splice site	probably benign
R0288:Stk32a	UTSW	18	43304995	splice site	probably null
R0330:Stk32a	UTSW	18	43313501	missense	probably benign	0.15
R1337:Stk32a	UTSW	18	43261349	missense	probably benign	0.00
R1559:Stk32a	UTSW	18	43243084	missense	probably benign	0.32
R1695:Stk32a	UTSW	18	43313420	nonsense	probably null
R1874:Stk32a	UTSW	18	43261316	missense	probably damaging	1.00
R1954:Stk32a	UTSW	18	43212025	missense	probably benign	0.45
R4529:Stk32a	UTSW	18	43242979	missense	possibly damaging	0.83
R4980:Stk32a	UTSW	18	43314048	missense	probably benign	0.01
R5124:Stk32a	UTSW	18	43305017	missense	probably benign	0.00
R5751:Stk32a	UTSW	18	43305020	missense	possibly damaging	0.74
R5822:Stk32a	UTSW	18	43313487	missense	probably benign	0.00
R5863:Stk32a	UTSW	18	43315144	missense	probably benign	0.00
R6167:Stk32a	UTSW	18	43313409	missense	probably damaging	1.00
R6355:Stk32a	UTSW	18	43297594	splice site	probably null
R6731:Stk32a	UTSW	18	43305078	missense	probably damaging	1.00
R7162:Stk32a	UTSW	18	43297584	nonsense	probably null
R8022:Stk32a	UTSW	18	43315101	nonsense	probably null
R8485:Stk32a	UTSW	18	43243010	missense	possibly damaging	0.83
R8994:Stk32a	UTSW	18	43310477	missense	probably benign	0.03
R9097:Stk32a	UTSW	18	43313432	missense	possibly damaging	0.62
R9183:Stk32a	UTSW	18	43261340	missense	probably damaging	1.00
R9258:Stk32a	UTSW	18	43311934	missense	probably benign	0.27
R9610:Stk32a	UTSW	18	43297555	missense	probably benign
R9611:Stk32a	UTSW	18	43297555	missense	probably benign
R9780:Stk32a	UTSW	18	43241984	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CCCTATGACTTGTAAAAGCTGTCTTAG -3'
(R):5'- TCTACCTTCCAAGCGGTGAAC -3'

Sequencing Primer
(F):5'- GAATGAACTCAGCAGCTTGTATCC -3'
(R):5'- TCACAGAGTCAATGCGTGCTG -3'

Posted On

2020-01-23