Mutagenetix > Incidental Mutations

Incidental Mutation 'R1892:Stk31'

211589

Institutional Source

Beutler Lab

Gene Symbol

Stk31

Ensembl Gene

ENSMUSG00000023403

Gene Name

serine threonine kinase 31

Synonyms

C330007K24Rik

MMRRC Submission

039912-MU

Accession Numbers

Genbank: NM_029916; MGI: 1924735

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49395604-49469501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49438474 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 536 (I536T)

Ref Sequence

ENSEMBL: ENSMUSP00000132896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024171] [ENSMUST00000163954] [ENSMUST00000172459]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024171
AA Change: I581T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: I581T

Domain	Start	End	E-Value	Type
TUDOR	81	135	1.34e-8	SMART
coiled coil region	298	345	N/A	INTRINSIC
Pfam:Pkinase_Tyr	768	932	4.6e-9	PFAM
Pfam:Pkinase	794	973	3.8e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163954
AA Change: I581T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: I581T

Domain	Start	End	E-Value	Type
TUDOR	81	135	1.34e-8	SMART
coiled coil region	298	345	N/A	INTRINSIC
Pfam:Pkinase_Tyr	784	922	7.4e-9	PFAM
Pfam:Pkinase	794	940	1.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167846

SMART Domains

Protein: ENSMUSP00000130561
Gene: ENSMUSG00000023403

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	105	287	1e-6	PFAM
Pfam:Pkinase	184	284	1.9e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172459
AA Change: I536T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: I536T

Domain	Start	End	E-Value	Type
TUDOR	81	135	1.34e-8	SMART
coiled coil region	298	345	N/A	INTRINSIC
Pfam:Pkinase_Tyr	739	890	5.2e-9	PFAM
Pfam:Pkinase	749	917	1.1e-16	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display normal embryonic development and spermatogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, other(1) Gene trapped(3)

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,216,338	A270T	probably benign	Het
Abcb7	A	T	X: 104,342,536	H97Q	probably damaging	Het
Adat3	T	C	10: 80,606,415	L29P	probably damaging	Het
AI987944	A	T	7: 41,374,596	C320S	probably damaging	Het
Asic4	C	T	1: 75,469,482	R285W	probably damaging	Het
Asic5	A	T	3: 82,020,986	I419L	probably damaging	Het
Batf	A	G	12: 85,689,328	K42E	probably damaging	Het
Bcar3	A	G	3: 122,508,136	N160S	probably benign	Het
Bco2	C	A	9: 50,550,563	G47V	probably damaging	Het
Bicc1	T	G	10: 70,958,784	K181T	probably damaging	Het
Brinp2	A	G	1: 158,254,972		probably null	Het
Cacng8	A	G	7: 3,415,052	D240G	possibly damaging	Het
Calca	A	G	7: 114,633,727	Y96H	probably damaging	Het
Cdh1	A	T	8: 106,664,250	K666I	possibly damaging	Het
Cdh16	A	T	8: 104,617,999	I500N	possibly damaging	Het
Chst14	A	G	2: 118,927,349	Y208C	probably damaging	Het
Chst9	T	C	18: 15,452,960	H182R	probably damaging	Het
Clk2	A	G	3: 89,175,195	I367M	possibly damaging	Het
Cobl	G	C	11: 12,253,258	S1066W	probably damaging	Het
Ctcfl	A	G	2: 173,118,685	V35A	probably benign	Het
Dchs1	G	T	7: 105,764,156	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,067,083	T529A	probably benign	Het
Dnah11	A	T	12: 118,106,474	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,646,304	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,677,261	E51G	probably benign	Het
Esd	C	T	14: 74,749,673	A266V	probably damaging	Het
Fam104a	G	T	11: 113,663,386	P161H	probably damaging	Het
Gli1	T	C	10: 127,330,106	M1093V	possibly damaging	Het
Gm15446	A	G	5: 109,943,387	K502E	probably damaging	Het
Gm15448	A	C	7: 3,824,574	C195G	probably benign	Het
Gm4076	T	A	13: 85,127,328		noncoding transcript	Het
Gm9830	A	G	9: 44,464,528		noncoding transcript	Het
Gm9938	G	A	19: 23,724,591		probably benign	Het
Grhl1	G	A	12: 24,584,910	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,726,766	D553E	probably benign	Het
Hpn	G	A	7: 31,099,043	Q415*	probably null	Het
Hsd11b1	T	G	1: 193,223,760	M175L	probably benign	Het
Htra1	G	A	7: 130,985,069	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,327,534	H76R	probably damaging	Het
Insrr	G	A	3: 87,813,877	V1112M	probably damaging	Het
Ints9	T	C	14: 65,020,423	S351P	probably benign	Het
Itgav	T	A	2: 83,771,336	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,464,317	V82L	probably benign	Het
Klc1	T	C	12: 111,781,827		probably null	Het
Kmt5c	T	A	7: 4,742,715	C69*	probably null	Het
Lgals3	T	G	14: 47,384,707	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,135,774	D1008V	probably damaging	Het
Mpg	C	T	11: 32,231,720	Q243*	probably null	Het
Muc15	C	T	2: 110,737,352	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 172,071,471		probably null	Het
Nek5	A	G	8: 22,107,729	M278T	probably benign	Het
Npas2	A	G	1: 39,345,422	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,788	D519G	probably null	Het
Nup43	A	G	10: 7,673,609	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr218	T	C	1: 173,204,228	Y291H	probably damaging	Het
Olfr497	A	T	7: 108,422,940	Y123F	possibly damaging	Het
Olfr790	A	C	10: 129,501,033	I50L	probably benign	Het
Perm1	C	T	4: 156,217,883	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,333,304	A135S	probably damaging	Het
Ppp4c	A	G	7: 126,786,280	V119A	probably damaging	Het
Prepl	A	G	17: 85,088,450	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,501,679	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Ranbp2	T	C	10: 58,464,099	V491A	probably benign	Het
Ranbp9	C	A	13: 43,416,457	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,670,586		probably null	Het
Rnf111	T	A	9: 70,476,374	K92N	probably damaging	Het
Rtn1	A	G	12: 72,212,563	I772T	probably damaging	Het
Ryr2	T	A	13: 11,658,958	K72*	probably null	Het
Sergef	A	T	7: 46,614,616		probably null	Het
Sez6l	T	C	5: 112,472,799	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,911,142	C383*	probably null	Het
Stab2	C	T	10: 86,938,049	C806Y	probably damaging	Het
Stard9	A	G	2: 120,693,708	T795A	probably benign	Het
Stox1	T	A	10: 62,665,399	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,459,768	Y219C	probably damaging	Het
Tap1	T	G	17: 34,194,941	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,218,943	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,624,805	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,021,157	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,714,362	N108D	probably benign	Het
Tox3	A	T	8: 90,270,241	N131K	probably benign	Het
Tspear	T	A	10: 77,870,474	D359E	probably benign	Het
Ttc9	A	G	12: 81,631,777	I125V	probably benign	Het
Ttn	A	T	2: 76,898,187		probably benign	Het
Ubn2	C	T	6: 38,491,291	S980F	probably damaging	Het
Zfp362	T	A	4: 128,790,264	T30S	probably benign	Het
Zfp385c	A	C	11: 100,637,804	H32Q	probably damaging	Het
Zfp870	A	T	17: 32,883,889	H156Q	possibly damaging	Het
Zfp873	T	C	10: 82,061,246	C641R	probably damaging	Het
Zfp950	A	T	19: 61,119,111	H511Q	probably benign	Het

Other mutations in Stk31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Stk31	APN	6	49437443	missense	probably benign	0.41
IGL02479:Stk31	APN	6	49421688	missense	probably damaging	0.99
IGL02490:Stk31	APN	6	49417535	missense	probably benign	0.04
IGL03165:Stk31	APN	6	49445264	missense	probably damaging	0.98
3-1:Stk31	UTSW	6	49417202	nonsense	probably null
R0016:Stk31	UTSW	6	49437377	missense	probably damaging	1.00
R0016:Stk31	UTSW	6	49437377	missense	probably damaging	1.00
R0039:Stk31	UTSW	6	49442258	missense	probably damaging	1.00
R0616:Stk31	UTSW	6	49423485	missense	probably damaging	1.00
R0732:Stk31	UTSW	6	49417495	missense	probably benign	0.00
R0975:Stk31	UTSW	6	49423409	missense	probably damaging	1.00
R1127:Stk31	UTSW	6	49409207	missense	probably damaging	1.00
R1705:Stk31	UTSW	6	49423384	missense	possibly damaging	0.94
R1711:Stk31	UTSW	6	49469304	missense	probably benign	0.10
R1942:Stk31	UTSW	6	49439127	missense	probably damaging	0.98
R1953:Stk31	UTSW	6	49446478	critical splice donor site	probably null
R2149:Stk31	UTSW	6	49439218	missense	possibly damaging	0.80
R2281:Stk31	UTSW	6	49417250	missense	probably damaging	1.00
R3438:Stk31	UTSW	6	49437521	missense	probably benign	0.00
R4681:Stk31	UTSW	6	49437435	missense	probably benign	0.37
R5333:Stk31	UTSW	6	49469152	missense	probably benign	0.00
R5492:Stk31	UTSW	6	49398243	missense	probably damaging	1.00
R5782:Stk31	UTSW	6	49469136	missense	probably benign	0.00
R5820:Stk31	UTSW	6	49417285	missense	probably damaging	0.96
R5931:Stk31	UTSW	6	49469302	missense	probably benign	0.05
R6012:Stk31	UTSW	6	49469309	missense	probably damaging	0.96
R6254:Stk31	UTSW	6	49421697	missense	probably benign	0.08
R6281:Stk31	UTSW	6	49469180	missense	possibly damaging	0.93
R6294:Stk31	UTSW	6	49417344	missense	probably benign	0.18
R6401:Stk31	UTSW	6	49423438	missense	probably damaging	1.00
R7289:Stk31	UTSW	6	49438459	missense	probably benign	0.05
R7490:Stk31	UTSW	6	49439232	critical splice donor site	probably null
R7659:Stk31	UTSW	6	49423406	missense	probably benign	0.00
R7757:Stk31	UTSW	6	49406943	splice site	probably null
R8172:Stk31	UTSW	6	49417327	missense	possibly damaging	0.79
Z1088:Stk31	UTSW	6	49417188	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGATATCCTTTCAGACAGCTTCAG -3'
(R):5'- AGCACACTGGATGTTAAACTACTTG -3'

Sequencing Primer
(F):5'- GGTTAACATTTTGCCTATGAGTATGC -3'
(R):5'- GTCCTTATACTTGGACAGCA -3'

Posted On

2014-06-30