Mutagenetix > Incidental Mutations

Incidental Mutation 'R0062:Stk32b'

46611

Institutional Source

Beutler Lab

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

YANK2, 2510009F08Rik, Stk32, STKG6

MMRRC Submission

038354-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37461448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 229 (S229P)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094836]

AlphaFold

Q9JJX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094836
AA Change: S229P

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

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: S229P

Domain	Start	End	E-Value	Type
S_TKc	23	283	1.18e-84	SMART
low complexity region	323	336	N/A	INTRINSIC

Meta Mutation Damage Score

0.3453

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,778,606		probably benign	Het
4930407I10Rik	T	A	15: 82,063,066	I388K	probably benign	Het
4930407I10Rik	T	A	15: 82,066,303	V1467D	probably damaging	Het
Abi2	T	A	1: 60,453,725	N182K	probably benign	Het
Adam25	A	T	8: 40,754,792	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,712,204	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,737,861	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,552,532	L503Q	probably damaging	Het
Arhgef28	A	T	13: 97,956,642	I977N	possibly damaging	Het
Armc4	T	A	18: 7,129,593		probably benign	Het
Cacna1b	A	G	2: 24,758,331	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,602,237	D1480G	probably damaging	Het
Clk3	A	G	9: 57,752,166	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504	I414T	possibly damaging	Het
Commd3	A	T	2: 18,674,703		probably null	Het
Crybg1	G	T	10: 43,997,906	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,765,711	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,672,272	P382S	probably benign	Het
Dock1	A	G	7: 134,777,495		probably null	Het
Dpysl3	C	T	18: 43,333,876		probably null	Het
Ebf2	T	A	14: 67,238,540		probably benign	Het
F830045P16Rik	T	C	2: 129,463,704	E250G	possibly damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fetub	T	C	16: 22,929,086		probably benign	Het
Fmn2	A	T	1: 174,608,449		probably benign	Het
Fryl	T	C	5: 73,022,278	I2929V	probably benign	Het
Gm11232	T	A	4: 71,756,875	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570		noncoding transcript	Het
Gna15	A	G	10: 81,512,405		probably null	Het
Gtf3c5	T	C	2: 28,572,186		probably benign	Het
Irs2	G	A	8: 11,005,723	T903I	possibly damaging	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,627,197	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,226	V593M	possibly damaging	Het
Kprp	T	C	3: 92,824,682	S354G	probably damaging	Het
Krt72	T	C	15: 101,786,008	K151E	probably damaging	Het
Letm2	A	T	8: 25,587,448		probably benign	Het
Lipe	A	G	7: 25,398,449	V23A	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mef2c	A	G	13: 83,652,873	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,280		probably benign	Het
Mthfd1	G	A	12: 76,297,589		probably benign	Het
Nbeal1	C	A	1: 60,247,717	N899K	probably benign	Het
Noc3l	T	C	19: 38,814,809	S129G	probably benign	Het
Olfr1223	T	C	2: 89,144,622	I134V	possibly damaging	Het
Olfr1338	T	C	4: 118,753,903	I212V	probably benign	Het
Olfr171	T	C	16: 19,624,417	M228V	probably benign	Het
Olfr905	T	A	9: 38,473,258	D170E	probably benign	Het
Pik3r6	T	A	11: 68,528,809	Y149N	probably damaging	Het
Pja2	C	A	17: 64,308,971	V310L	probably damaging	Het
Plcd3	G	A	11: 103,074,894	A504V	probably benign	Het
Rint1	G	A	5: 23,787,828		probably benign	Het
Ripor3	A	G	2: 167,984,438		probably benign	Het
Rpa2	C	A	4: 132,777,814	N251K	probably damaging	Het
Rttn	T	C	18: 89,010,966		probably null	Het
Ryr2	C	T	13: 11,869,116		probably null	Het
Scara3	T	C	14: 65,930,968	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,189,631	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,189,632	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,521,863		probably null	Het
Slco1a4	G	A	6: 141,819,479	Q346*	probably null	Het
Syde2	A	G	3: 145,998,753	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,222,302		probably benign	Het
Ticrr	T	C	7: 79,667,906	V396A	probably benign	Het
Trrap	T	C	5: 144,782,193		probably benign	Het
Vmn1r124	A	T	7: 21,259,818	I267K	probably benign	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,864,749	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,079,827	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 11,139,147	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,416,753	K1324E	probably benign	Het

Other mutations in Stk32b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02166:Stk32b	APN	5	37499030	splice site	probably benign
IGL02525:Stk32b	APN	5	37531633	missense	probably damaging	1.00
IGL02946:Stk32b	APN	5	37531539	splice site	probably benign
IGL03277:Stk32b	APN	5	37628976	missense	probably damaging	0.99
flank	UTSW	5	37466781	missense	probably damaging	1.00
H8441:Stk32b	UTSW	5	37457234	missense	probably damaging	1.00
R0042:Stk32b	UTSW	5	37716748	missense	probably benign	0.09
R0042:Stk32b	UTSW	5	37716748	missense	probably benign	0.09
R0051:Stk32b	UTSW	5	37459596	splice site	probably benign
R0051:Stk32b	UTSW	5	37459596	splice site	probably benign
R0062:Stk32b	UTSW	5	37461448	missense	probably damaging	1.00
R0601:Stk32b	UTSW	5	37531566	missense	probably damaging	1.00
R0879:Stk32b	UTSW	5	37459596	splice site	probably benign
R1812:Stk32b	UTSW	5	37466758	missense	probably damaging	1.00
R1882:Stk32b	UTSW	5	37531687	missense	possibly damaging	0.91
R1982:Stk32b	UTSW	5	37649114	missense	probably damaging	0.99
R3899:Stk32b	UTSW	5	37457154	missense	probably damaging	1.00
R4724:Stk32b	UTSW	5	37454934	critical splice donor site	probably null
R4885:Stk32b	UTSW	5	37466797	missense	probably damaging	1.00
R5531:Stk32b	UTSW	5	37459734	splice site	probably null
R5629:Stk32b	UTSW	5	37457232	missense	probably damaging	1.00
R6042:Stk32b	UTSW	5	37649114	missense	probably damaging	0.99
R6610:Stk32b	UTSW	5	37448678	missense	probably benign	0.04
R6864:Stk32b	UTSW	5	37448805	splice site	probably null
R6879:Stk32b	UTSW	5	37490523	missense	possibly damaging	0.77
R7186:Stk32b	UTSW	5	37466781	missense	probably damaging	1.00
R8317:Stk32b	UTSW	5	37454975	missense	probably damaging	0.99
R8676:Stk32b	UTSW	5	37457159	missense	probably benign	0.00
R8795:Stk32b	UTSW	5	37649139	missense	probably damaging	0.98
R8948:Stk32b	UTSW	5	37454997	missense	possibly damaging	0.87
R9192:Stk32b	UTSW	5	37629000	missense	probably damaging	1.00
V1024:Stk32b	UTSW	5	37457234	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCCCTTCCTAATACCTACATGC -3'
(R):5'- CTGCCTTGCTGAGATAGAAGAGCC -3'

Sequencing Primer
(F):5'- TTAATAGGAACTTGCAGTGGACTGG -3'
(R):5'- CTGAGATAGAAGAGCCCATAGCATC -3'

Posted On

2013-06-11