Mutagenetix > Incidental Mutation

Incidental Mutation 'R1554:Stk38'

170191

Institutional Source

Beutler Lab

Gene Symbol

Stk38

Ensembl Gene

ENSMUSG00000024006

Gene Name

serine/threonine kinase 38

Synonyms

5830476G13Rik, Ndr1, 9530097A09Rik

MMRRC Submission

039593-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.516) question?

Stock #

R1554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29189854-29226969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29198206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 248 (N248I)

Ref Sequence

ENSEMBL: ENSMUSP00000113657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009138] [ENSMUST00000119274]

AlphaFold

Q91VJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009138
AA Change: N248I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000009138
Gene: ENSMUSG00000024006
AA Change: N248I

Domain	Start	End	E-Value	Type
Blast:S_TKc	31	77	1e-9	BLAST
S_TKc	89	382	1.69e-94	SMART
S_TK_X	383	447	1.23e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119274
AA Change: N248I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113657
Gene: ENSMUSG00000024006
AA Change: N248I

Domain	Start	End	E-Value	Type
Blast:S_TKc	31	77	1e-9	BLAST
S_TKc	89	382	1.69e-94	SMART
S_TK_X	383	447	1.23e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144299

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection and altered TLR9-activated inflammatory responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,886,302 (GRCm39)	D70E	possibly damaging	Het
Adamts7	A	T	9: 90,055,703 (GRCm39)	D152V	probably damaging	Het
Api5	T	C	2: 94,255,988 (GRCm39)	D233G	probably benign	Het
Btaf1	A	G	19: 36,973,998 (GRCm39)	D1390G	probably benign	Het
Cep135	G	A	5: 76,782,060 (GRCm39)	W893*	probably null	Het
Cgas	A	T	9: 78,342,838 (GRCm39)	S321R	probably damaging	Het
Cmtm6	T	A	9: 114,575,550 (GRCm39)	V153D	possibly damaging	Het
Dnah11	C	T	12: 118,046,234 (GRCm39)	V1735I	possibly damaging	Het
Dnm1l	T	C	16: 16,159,290 (GRCm39)	N104S	probably benign	Het
Dpyd	A	T	3: 118,858,695 (GRCm39)		probably null	Het
Dtx1	T	C	5: 120,821,386 (GRCm39)	K387R	probably damaging	Het
Ercc4	A	G	16: 12,965,486 (GRCm39)	D706G	probably damaging	Het
Fat2	T	C	11: 55,144,490 (GRCm39)	N4128S	probably benign	Het
Gm42669	T	A	5: 107,655,653 (GRCm39)	C639S	possibly damaging	Het
Grk3	T	A	5: 113,117,135 (GRCm39)	I89L	possibly damaging	Het
Grm8	A	T	6: 28,125,852 (GRCm39)	D91E	probably benign	Het
Havcr1	C	A	11: 46,643,334 (GRCm39)	H85N	probably benign	Het
Il12rb1	G	A	8: 71,266,016 (GRCm39)		probably null	Het
Kif3a	A	G	11: 53,489,154 (GRCm39)	K117E	probably damaging	Het
Kitl	T	A	10: 99,923,300 (GRCm39)	F15L	probably benign	Het
Ktn1	T	G	14: 47,932,964 (GRCm39)	L706R	probably damaging	Het
Lipg	T	C	18: 75,081,118 (GRCm39)	Y321C	probably damaging	Het
Mapk8ip3	T	C	17: 25,122,033 (GRCm39)	D710G	probably benign	Het
Mchr1	A	G	15: 81,120,021 (GRCm39)	N16S	probably benign	Het
Myadml2	A	T	11: 120,538,553 (GRCm39)	L94*	probably null	Het
Npr3	C	A	15: 11,848,649 (GRCm39)	M439I	probably benign	Het
Obscn	A	G	11: 58,894,474 (GRCm39)	I6677T	unknown	Het
Ogn	A	C	13: 49,774,520 (GRCm39)	D221A	probably benign	Het
Or8b40	T	C	9: 38,027,230 (GRCm39)	I46T	probably benign	Het
Pard3b	C	A	1: 62,677,053 (GRCm39)	Q1195K	probably damaging	Het
Pcsk4	T	C	10: 80,157,785 (GRCm39)	E608G	probably benign	Het
Pdlim1	T	C	19: 40,211,516 (GRCm39)	D259G	probably benign	Het
Per1	T	C	11: 68,994,453 (GRCm39)	S526P	probably damaging	Het
Pfkfb2	A	G	1: 130,634,209 (GRCm39)	V156A	probably damaging	Het
Ppp4r3a	A	T	12: 101,022,081 (GRCm39)	D307E	probably damaging	Het
Rims4	T	C	2: 163,721,042 (GRCm39)	S70G	probably damaging	Het
Rnf213	T	C	11: 119,332,665 (GRCm39)	F2625L	probably benign	Het
Sap130	T	C	18: 31,799,525 (GRCm39)	L334P	probably damaging	Het
Slc16a10	T	C	10: 39,952,796 (GRCm39)	I233V	probably benign	Het
Slc16a7	A	C	10: 125,066,791 (GRCm39)	F283V	possibly damaging	Het
Slc25a24	T	C	3: 109,043,586 (GRCm39)	M81T	probably benign	Het
Slc30a9	A	G	5: 67,484,264 (GRCm39)	R134G	probably damaging	Het
Slc35d3	G	T	10: 19,726,483 (GRCm39)	L96M	probably damaging	Het
Slc7a11	C	T	3: 50,336,345 (GRCm39)	G333D	probably damaging	Het
Stam	T	C	2: 14,146,639 (GRCm39)	S446P	probably benign	Het
Tasor2	A	G	13: 3,626,374 (GRCm39)	V1192A	possibly damaging	Het
Tle6	A	C	10: 81,431,219 (GRCm39)	S221A	probably benign	Het
Tmprss11b	G	A	5: 86,809,490 (GRCm39)	T334I	probably benign	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Tpm1	T	C	9: 66,930,711 (GRCm39)	H262R	probably benign	Het
Tspan33	T	C	6: 29,711,081 (GRCm39)	S118P	possibly damaging	Het
Tyk2	A	G	9: 21,019,218 (GRCm39)	V1068A	probably damaging	Het
Ubr2	T	C	17: 47,283,877 (GRCm39)	I591V	probably benign	Het
Utp20	A	T	10: 88,600,599 (GRCm39)	Y38*	probably null	Het
Vmn1r217	A	T	13: 23,298,464 (GRCm39)	I146N	possibly damaging	Het
Zfp608	T	C	18: 55,031,126 (GRCm39)	Y938C	probably damaging	Het

Other mutations in Stk38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02364:Stk38	APN	17	29,210,390 (GRCm39)	missense	probably benign
IGL03279:Stk38	APN	17	29,203,179 (GRCm39)	splice site	probably benign
R0029:Stk38	UTSW	17	29,201,112 (GRCm39)	missense	probably benign	0.00
R0276:Stk38	UTSW	17	29,211,390 (GRCm39)	critical splice donor site	probably null
R0611:Stk38	UTSW	17	29,194,907 (GRCm39)	missense	possibly damaging	0.72
R4583:Stk38	UTSW	17	29,201,130 (GRCm39)	missense	probably damaging	1.00
R5191:Stk38	UTSW	17	29,193,344 (GRCm39)	missense	probably benign	0.19
R5686:Stk38	UTSW	17	29,201,103 (GRCm39)	missense	probably damaging	1.00
R6366:Stk38	UTSW	17	29,193,338 (GRCm39)	missense	probably benign	0.01
R6468:Stk38	UTSW	17	29,203,086 (GRCm39)	missense	probably benign	0.35
R6830:Stk38	UTSW	17	29,218,981 (GRCm39)	critical splice donor site	probably null
R7237:Stk38	UTSW	17	29,193,620 (GRCm39)	missense	possibly damaging	0.49
R8000:Stk38	UTSW	17	29,211,422 (GRCm39)	missense	probably benign
R8263:Stk38	UTSW	17	29,203,161 (GRCm39)	missense	probably damaging	1.00
R8551:Stk38	UTSW	17	29,207,199 (GRCm39)	missense	probably damaging	1.00
R8805:Stk38	UTSW	17	29,219,094 (GRCm39)	missense	probably benign	0.00
R9529:Stk38	UTSW	17	29,207,210 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCATTAGCACAGTTGGAAGCG -3'
(R):5'- TCCTTGTAGTAAGCTGGGTAGGAGAAG -3'

Sequencing Primer
(F):5'- TCATCTCGCCTAGTCAGACAG -3'
(R):5'- gctgggtaggagaagtctgtTG -3'

Posted On

2014-04-13