Mutagenetix > Incidental Mutation

Incidental Mutation 'R1882:Stk32b'

209172

Institutional Source

Beutler Lab

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

Stk32, 2510009F08Rik, YANK2, STKG6

MMRRC Submission

039903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37604169-37874503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37689031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 98 (M98L)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

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

AlphaFold

Q9JJX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094836
AA Change: M98L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: M98L

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

0.1477

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.6%
20x: 93.5%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,786,945 (GRCm39)	S189P	probably benign	Het
Adgrg3	G	T	8: 95,766,943 (GRCm39)	V433F	probably benign	Het
Arhgap33	A	T	7: 30,222,234 (GRCm39)	W1233R	probably damaging	Het
Brf2	T	C	8: 27,618,577 (GRCm39)	D9G	probably damaging	Het
Btrc	G	A	19: 45,515,839 (GRCm39)	R562Q	probably damaging	Het
Cenpu	T	C	8: 47,009,225 (GRCm39)	F67L	probably damaging	Het
Chia1	T	C	3: 106,035,790 (GRCm39)	M150T	probably damaging	Het
Cntln	A	G	4: 85,019,072 (GRCm39)	E1254G	probably damaging	Het
Creld1	G	A	6: 113,469,166 (GRCm39)	C332Y	probably damaging	Het
Ctla2a	A	G	13: 61,083,355 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,785,043 (GRCm39)	D223E	probably benign	Het
Ext1	C	A	15: 52,939,188 (GRCm39)	L620F	probably damaging	Het
H2-DMb2	C	T	17: 34,366,834 (GRCm39)	R89C	probably damaging	Het
Klhl32	A	T	4: 24,743,916 (GRCm39)	L17*	probably null	Het
Lats2	C	T	14: 57,934,811 (GRCm39)	V640M	probably damaging	Het
Lrig3	G	A	10: 125,845,694 (GRCm39)	V708I	possibly damaging	Het
Mtcl1	T	C	17: 66,686,315 (GRCm39)	T415A	probably benign	Het
Mynn	A	G	3: 30,670,962 (GRCm39)	*611W	probably null	Het
Nfx1	A	G	4: 41,009,240 (GRCm39)	T793A	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,604 (GRCm39)		noncoding transcript	Het
Nos3	T	C	5: 24,573,818 (GRCm39)	V194A	probably damaging	Het
Npc1l1	C	T	11: 6,167,473 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,154,150 (GRCm39)	D589G	probably damaging	Het
Omg	C	T	11: 79,392,545 (GRCm39)		probably benign	Het
Or10v9	T	C	19: 11,832,835 (GRCm39)	T161A	probably damaging	Het
Or14j5	T	C	17: 38,161,839 (GRCm39)	S119P	probably damaging	Het
Or2y17	A	G	11: 49,231,539 (GRCm39)	Y60C	probably damaging	Het
Or8k16	T	A	2: 85,519,950 (GRCm39)	M59K	probably damaging	Het
P2ry2	G	T	7: 100,648,058 (GRCm39)	Y82*	probably null	Het
Pcdh1	T	C	18: 38,335,895 (GRCm39)	T247A	possibly damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pgm3	A	G	9: 86,447,743 (GRCm39)	Y167H	possibly damaging	Het
Pramel15	A	T	4: 144,103,485 (GRCm39)	C214S	probably benign	Het
Prmt2	T	C	10: 76,058,302 (GRCm39)	H169R	probably benign	Het
Rad51ap2	T	A	12: 11,506,251 (GRCm39)	S58T	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,230,925 (GRCm39)	S217P	probably benign	Het
Slco1a8	C	A	6: 141,939,363 (GRCm39)		probably null	Het
Snx27	G	A	3: 94,426,416 (GRCm39)	T361I	probably damaging	Het
St7l	A	G	3: 104,775,363 (GRCm39)	T80A	probably damaging	Het
Tonsl	C	A	15: 76,508,350 (GRCm39)	A6S	possibly damaging	Het
Tpx2	A	G	2: 152,711,611 (GRCm39)	R49G	probably benign	Het
Trmt2a	A	G	16: 18,067,758 (GRCm39)	K144E	possibly damaging	Het
Trpm7	A	C	2: 126,654,697 (GRCm39)	L1414V	probably benign	Het
Ugdh	T	C	5: 65,580,939 (GRCm39)	K107E	possibly damaging	Het
Vamp3	A	T	4: 151,135,366 (GRCm39)		probably benign	Het
Vmn1r172	T	C	7: 23,359,651 (GRCm39)	S179P	probably damaging	Het
Vmn1r28	A	G	6: 58,242,963 (GRCm39)	M269V	probably benign	Het
Vmn2r94	T	C	17: 18,464,476 (GRCm39)	T605A	probably benign	Het
Vwce	A	G	19: 10,615,520 (GRCm39)	T134A	possibly damaging	Het
Zfp277	T	C	12: 40,495,745 (GRCm39)	E5G	probably benign	Het

Other mutations in Stk32b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02166:Stk32b	APN	5	37,656,374 (GRCm39)	splice site	probably benign
IGL02525:Stk32b	APN	5	37,688,977 (GRCm39)	missense	probably damaging	1.00
IGL02946:Stk32b	APN	5	37,688,883 (GRCm39)	splice site	probably benign
IGL03277:Stk32b	APN	5	37,786,320 (GRCm39)	missense	probably damaging	0.99
flank	UTSW	5	37,624,125 (GRCm39)	missense	probably damaging	1.00
H8441:Stk32b	UTSW	5	37,614,578 (GRCm39)	missense	probably damaging	1.00
R0042:Stk32b	UTSW	5	37,874,092 (GRCm39)	missense	probably benign	0.09
R0042:Stk32b	UTSW	5	37,874,092 (GRCm39)	missense	probably benign	0.09
R0051:Stk32b	UTSW	5	37,616,940 (GRCm39)	splice site	probably benign
R0051:Stk32b	UTSW	5	37,616,940 (GRCm39)	splice site	probably benign
R0062:Stk32b	UTSW	5	37,618,792 (GRCm39)	missense	probably damaging	1.00
R0062:Stk32b	UTSW	5	37,618,792 (GRCm39)	missense	probably damaging	1.00
R0601:Stk32b	UTSW	5	37,688,910 (GRCm39)	missense	probably damaging	1.00
R0879:Stk32b	UTSW	5	37,616,940 (GRCm39)	splice site	probably benign
R1812:Stk32b	UTSW	5	37,624,102 (GRCm39)	missense	probably damaging	1.00
R1982:Stk32b	UTSW	5	37,806,458 (GRCm39)	missense	probably damaging	0.99
R3899:Stk32b	UTSW	5	37,614,498 (GRCm39)	missense	probably damaging	1.00
R4724:Stk32b	UTSW	5	37,612,278 (GRCm39)	critical splice donor site	probably null
R4885:Stk32b	UTSW	5	37,624,141 (GRCm39)	missense	probably damaging	1.00
R5531:Stk32b	UTSW	5	37,617,078 (GRCm39)	splice site	probably null
R5629:Stk32b	UTSW	5	37,614,576 (GRCm39)	missense	probably damaging	1.00
R6042:Stk32b	UTSW	5	37,806,458 (GRCm39)	missense	probably damaging	0.99
R6610:Stk32b	UTSW	5	37,606,022 (GRCm39)	missense	probably benign	0.04
R6864:Stk32b	UTSW	5	37,606,149 (GRCm39)	splice site	probably null
R6879:Stk32b	UTSW	5	37,647,867 (GRCm39)	missense	possibly damaging	0.77
R7186:Stk32b	UTSW	5	37,624,125 (GRCm39)	missense	probably damaging	1.00
R8317:Stk32b	UTSW	5	37,612,319 (GRCm39)	missense	probably damaging	0.99
R8676:Stk32b	UTSW	5	37,614,503 (GRCm39)	missense	probably benign	0.00
R8795:Stk32b	UTSW	5	37,806,483 (GRCm39)	missense	probably damaging	0.98
R8948:Stk32b	UTSW	5	37,612,341 (GRCm39)	missense	possibly damaging	0.87
R9192:Stk32b	UTSW	5	37,786,344 (GRCm39)	missense	probably damaging	1.00
R9776:Stk32b	UTSW	5	37,617,001 (GRCm39)	missense	probably benign
V1024:Stk32b	UTSW	5	37,614,578 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCCCCACTGCACTGTAG -3'
(R):5'- GAATGGGATTGGAAAGCCTTCTG -3'

Sequencing Primer
(F):5'- ACTGCACCTGTCACCTGC -3'
(R):5'- GCTTCTCACCTCCCACAGC -3'

Posted On

2014-06-30