Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Stk38l'

39316

Institutional Source

Beutler Lab

Gene Symbol

Stk38l

Ensembl Gene

ENSMUSG00000001630

Gene Name

serine/threonine kinase 38 like

Synonyms

Ndr2, 4930473A22Rik

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R0445 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

146626493-146680310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146677184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 461 (S461T)

Ref Sequence

ENSEMBL: ENSMUSP00000107271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001675] [ENSMUST00000111644]

AlphaFold

Q7TSE6

Predicted Effect

probably benign
Transcript: ENSMUST00000001675
AA Change: S454T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001675
Gene: ENSMUSG00000001630
AA Change: S454T

Domain	Start	End	E-Value	Type
S_TKc	90	383	5.62e-100	SMART
S_TK_X	384	445	2.88e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111644
AA Change: S461T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107271
Gene: ENSMUSG00000001630
AA Change: S461T

Domain	Start	End	E-Value	Type
S_TKc	90	383	5.62e-100	SMART
S_TK_X	384	452	3.66e-1	SMART

Meta Mutation Damage Score

0.0584

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

MGI Phenotype

PHENOTYPE: Homozygous gene-trapped mice exhibit premature dendritic branching of CA3 pyramidal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	probably damaging	Het

Other mutations in Stk38l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Stk38l	APN	6	146,659,971 (GRCm39)	start codon destroyed	probably null	0.05
IGL00976:Stk38l	APN	6	146,676,900 (GRCm39)	missense	probably benign	0.37
IGL01607:Stk38l	APN	6	146,673,725 (GRCm39)	splice site	probably benign
IGL01607:Stk38l	APN	6	146,673,152 (GRCm39)	missense	probably damaging	0.99
IGL02552:Stk38l	APN	6	146,669,031 (GRCm39)	missense	probably damaging	1.00
IGL02582:Stk38l	APN	6	146,668,321 (GRCm39)	critical splice donor site	probably null
IGL03036:Stk38l	APN	6	146,670,372 (GRCm39)	missense	probably damaging	1.00
R1518:Stk38l	UTSW	6	146,673,129 (GRCm39)	missense	probably benign	0.09
R2117:Stk38l	UTSW	6	146,670,344 (GRCm39)	missense	probably damaging	1.00
R5297:Stk38l	UTSW	6	146,677,153 (GRCm39)	nonsense	probably null
R5602:Stk38l	UTSW	6	146,659,998 (GRCm39)	missense	probably benign	0.39
R5652:Stk38l	UTSW	6	146,674,826 (GRCm39)	missense	possibly damaging	0.91
R6830:Stk38l	UTSW	6	146,668,269 (GRCm39)	missense	possibly damaging	0.88
R7572:Stk38l	UTSW	6	146,677,152 (GRCm39)	missense	probably damaging	1.00
R8028:Stk38l	UTSW	6	146,674,881 (GRCm39)	missense	probably damaging	1.00
R8120:Stk38l	UTSW	6	146,660,099 (GRCm39)	missense	probably benign
R8142:Stk38l	UTSW	6	146,660,070 (GRCm39)	missense	probably benign	0.33
R8483:Stk38l	UTSW	6	146,660,017 (GRCm39)	missense	possibly damaging	0.74
R9153:Stk38l	UTSW	6	146,660,048 (GRCm39)	missense	probably benign	0.10
R9706:Stk38l	UTSW	6	146,677,104 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGCCAGGTAAGAAGTTCACAAGC -3'
(R):5'- ATGCACGTAGGCAGTGCAGTTAGG -3'

Sequencing Primer
(F):5'- GGTAAGAAGTTCACAAGCATACCC -3'
(R):5'- aagaaaaagaaaaaaaaaaGCTGAGC -3'

Posted On

2013-05-23