Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Stk40'

471935

Institutional Source

Beutler Lab

Gene Symbol

Stk40

Ensembl Gene

ENSMUSG00000042608

Gene Name

serine/threonine kinase 40

Synonyms

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126103957-126141029 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126128895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 140 (V140A)

Ref Sequence

ENSEMBL: ENSMUSP00000092354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094761] [ENSMUST00000116286] [ENSMUST00000139188] [ENSMUST00000139524]

AlphaFold

Q7TNL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000094761
AA Change: V140A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092354
Gene: ENSMUSG00000042608
AA Change: V140A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	36	328	5.6e-39	PFAM
Pfam:Pkinase_Tyr	36	328	2.4e-20	PFAM
Pfam:Kinase-like	116	318	2e-8	PFAM
low complexity region	350	362	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000116286
AA Change: V154A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111990
Gene: ENSMUSG00000042608
AA Change: V154A

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	51	342	1.9e-19	PFAM
Pfam:Pkinase	52	342	9.2e-37	PFAM
Pfam:Kinase-like	130	332	1.7e-8	PFAM
low complexity region	364	376	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134369

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139188
AA Change: V140A

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114793
Gene: ENSMUSG00000042608
AA Change: V140A

Domain	Start	End	E-Value	Type
low complexity region	89	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139524

Meta Mutation Damage Score

0.3174

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with cyanosis, atelectasis, respiratory distress and impaired lung maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567 (GRCm38)	Q581*	probably null	Het
Agl	A	G	3: 116,793,774 (GRCm38)	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260 (GRCm38)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227 (GRCm38)		probably benign	Het
Bbs2	T	C	8: 94,068,367 (GRCm38)	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818 (GRCm38)	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736 (GRCm38)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940 (GRCm38)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434 (GRCm38)	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572 (GRCm38)	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183 (GRCm38)	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217 (GRCm38)	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723 (GRCm38)	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029 (GRCm38)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760 (GRCm38)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954 (GRCm38)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962 (GRCm38)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223 (GRCm38)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467 (GRCm38)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089 (GRCm38)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128 (GRCm38)	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880 (GRCm38)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584 (GRCm38)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699 (GRCm38)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167 (GRCm38)	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162 (GRCm38)	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120 (GRCm38)	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999 (GRCm38)	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129 (GRCm38)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469 (GRCm38)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757 (GRCm38)	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447 (GRCm38)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922 (GRCm38)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524 (GRCm38)	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425 (GRCm38)	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288 (GRCm38)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762 (GRCm38)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165 (GRCm38)	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177 (GRCm38)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587 (GRCm38)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833 (GRCm38)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636 (GRCm38)	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079 (GRCm38)		probably null	Het
Ngrn	T	C	7: 80,261,933 (GRCm38)		probably null	Het
Nlrp1a	T	A	11: 71,123,020 (GRCm38)	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531 (GRCm38)	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198 (GRCm38)	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934 (GRCm38)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm38)	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254 (GRCm38)	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051 (GRCm38)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886 (GRCm38)	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576 (GRCm38)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898 (GRCm38)	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696 (GRCm38)		probably benign	Het
Serac1	T	A	17: 6,065,049 (GRCm38)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073 (GRCm38)	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236 (GRCm38)	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951 (GRCm38)		probably null	Het
Smarca4	C	A	9: 21,647,430 (GRCm38)	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481 (GRCm38)	R163Q	possibly damaging	Het
Tcf12	A	T	9: 71,868,240 (GRCm38)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255 (GRCm38)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703 (GRCm38)	H131N	probably damaging	Het
Ttn	C	A	2: 76,829,888 (GRCm38)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,713,511 (GRCm38)	E31298*	probably null	Het
Usp7	A	G	16: 8,712,102 (GRCm38)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180 (GRCm38)	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011 (GRCm38)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845 (GRCm38)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933 (GRCm38)	K21R	possibly damaging	Het

Other mutations in Stk40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Stk40	APN	4	126,136,902 (GRCm38)	missense	probably damaging	1.00
IGL03081:Stk40	APN	4	126,123,714 (GRCm38)	critical splice acceptor site	probably null
IGL03273:Stk40	APN	4	126,123,806 (GRCm38)	missense	possibly damaging	0.94
R0562:Stk40	UTSW	4	126,138,801 (GRCm38)	splice site	probably benign
R0639:Stk40	UTSW	4	126,118,332 (GRCm38)	nonsense	probably null
R1432:Stk40	UTSW	4	126,136,833 (GRCm38)	missense	probably damaging	1.00
R1888:Stk40	UTSW	4	126,125,745 (GRCm38)	missense	probably damaging	1.00
R1888:Stk40	UTSW	4	126,125,745 (GRCm38)	missense	probably damaging	1.00
R2119:Stk40	UTSW	4	126,128,847 (GRCm38)	missense	probably benign	0.00
R2120:Stk40	UTSW	4	126,128,847 (GRCm38)	missense	probably benign	0.00
R2122:Stk40	UTSW	4	126,128,847 (GRCm38)	missense	probably benign	0.00
R4498:Stk40	UTSW	4	126,129,751 (GRCm38)	critical splice donor site	probably null
R5555:Stk40	UTSW	4	126,135,059 (GRCm38)	missense	probably damaging	0.98
R6868:Stk40	UTSW	4	126,123,814 (GRCm38)	missense	probably damaging	0.99
R6902:Stk40	UTSW	4	126,137,812 (GRCm38)	missense	probably benign	0.03
R7207:Stk40	UTSW	4	126,125,754 (GRCm38)	missense	probably damaging	1.00
R7227:Stk40	UTSW	4	126,123,766 (GRCm38)	missense	probably benign	0.01
R7304:Stk40	UTSW	4	126,125,690 (GRCm38)	missense	probably benign	0.02
R7996:Stk40	UTSW	4	126,136,874 (GRCm38)	missense	probably damaging	1.00
R8353:Stk40	UTSW	4	126,128,973 (GRCm38)	missense	probably damaging	1.00
R8444:Stk40	UTSW	4	126,118,334 (GRCm38)	missense	probably benign
R8453:Stk40	UTSW	4	126,128,973 (GRCm38)	missense	probably damaging	1.00
R9612:Stk40	UTSW	4	126,136,857 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGTGACCACCTACGTGTG -3'
(R):5'- AGGACCAAGCAGCTTTCTG -3'

Sequencing Primer
(F):5'- TACGTGTGCCTCGCTCAAG -3'
(R):5'- CCAAGAAAGATGCTTTTCCTGGG -3'

Posted On

2017-03-31