Mutagenetix > Incidental Mutation

Incidental Mutation 'R5297:Stk38l'

405479

Institutional Source

Beutler Lab

Gene Symbol

Stk38l

Ensembl Gene

ENSMUSG00000001630

Gene Name

serine/threonine kinase 38 like

Synonyms

4930473A22Rik, Ndr2

MMRRC Submission

042880-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.617) question?

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146724995-146778812 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 146775655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 450 (Y450*)

Ref Sequence

ENSEMBL: ENSMUSP00000107271 (fasta)

Gene Model

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

AlphaFold

Q7TSE6

Predicted Effect

probably null
Transcript: ENSMUST00000001675
AA Change: Y443*

SMART Domains

Protein: ENSMUSP00000001675
Gene: ENSMUSG00000001630
AA Change: Y443*

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 null
Transcript: ENSMUST00000111644
AA Change: Y450*

SMART Domains

Protein: ENSMUSP00000107271
Gene: ENSMUSG00000001630
AA Change: Y450*

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,587,458 (GRCm38)	A135S	probably benign	Het
Agbl4	A	G	4: 111,566,698 (GRCm38)	K307R	possibly damaging	Het
Akna	T	C	4: 63,381,846 (GRCm38)	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,121,888 (GRCm38)	Y273H	probably damaging	Het
Atg14	G	A	14: 47,568,199 (GRCm38)	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,591,127 (GRCm38)	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,742,361 (GRCm38)	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345 (GRCm38)	N132Y	probably damaging	Het
Casp6	T	C	3: 129,910,555 (GRCm38)	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,285,370 (GRCm38)	N296S	possibly damaging	Het
Col6a4	T	C	9: 106,074,867 (GRCm38)	K611E	probably benign	Het
Copa	A	G	1: 172,113,108 (GRCm38)	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,312,204 (GRCm38)	N283K	probably benign	Het
Dcc	C	T	18: 71,378,738 (GRCm38)	V869I	probably benign	Het
Efemp1	G	T	11: 28,867,868 (GRCm38)	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,460,553 (GRCm38)	E373G	probably benign	Het
Fbxo9	T	C	9: 78,086,279 (GRCm38)	T318A	probably benign	Het
Gipr	A	G	7: 19,157,544 (GRCm38)	W403R	probably damaging	Het
Gm4787	G	C	12: 81,377,830 (GRCm38)	T518S	probably benign	Het
Golgb1	G	A	16: 36,875,616 (GRCm38)		probably benign	Het
Hdac1-ps	A	G	17: 78,492,758 (GRCm38)	S393G	probably benign	Het
Herc3	T	C	6: 58,856,641 (GRCm38)	L171P	probably damaging	Het
Il5ra	A	G	6: 106,738,134 (GRCm38)	I221T	probably benign	Het
Itgb2	A	G	10: 77,564,667 (GRCm38)	I705V	probably damaging	Het
Map4k4	G	T	1: 39,962,217 (GRCm38)	V55F	probably damaging	Het
Mast1	A	G	8: 84,913,318 (GRCm38)		probably null	Het
Mitf	G	T	6: 97,994,430 (GRCm38)	G186V	probably benign	Het
Mtpn	C	T	6: 35,512,290 (GRCm38)	D100N	probably benign	Het
Nrcam	T	C	12: 44,544,784 (GRCm38)	F204L	probably damaging	Het
Or10g1	A	G	14: 52,410,218 (GRCm38)	L218P	probably damaging	Het
Or10x4	A	G	1: 174,391,200 (GRCm38)	M44V	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,395,654 (GRCm38)		probably null	Het
Or1e22	A	T	11: 73,486,389 (GRCm38)	V145E	probably damaging	Het
Or2a12	T	C	6: 42,927,437 (GRCm38)	S69P	probably benign	Het
Or52n4b	A	T	7: 108,545,404 (GRCm38)	N291I	probably damaging	Het
Or5as1	T	C	2: 87,150,449 (GRCm38)	I71V	probably benign	Het
Pclo	A	T	5: 14,676,249 (GRCm38)		probably benign	Het
Pik3ca	T	A	3: 32,450,053 (GRCm38)	Y631N	probably damaging	Het
Pramel19	T	A	4: 101,941,151 (GRCm38)	D106E	possibly damaging	Het
Ptk2b	T	C	14: 66,172,517 (GRCm38)	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,778 (GRCm38)	S427P	probably damaging	Het
Scn3a	T	A	2: 65,469,034 (GRCm38)	Y1376F	possibly damaging	Het
Shoc1	A	G	4: 59,047,543 (GRCm38)	W1359R	probably benign	Het
Spem1	A	G	11: 69,820,927 (GRCm38)	Y304H	probably damaging	Het
Stx19	A	G	16: 62,821,974 (GRCm38)	E51G	probably damaging	Het
Ttc41	C	G	10: 86,776,579 (GRCm38)	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,281,340 (GRCm38)	R229H	probably damaging	Het
Utp18	A	T	11: 93,876,089 (GRCm38)	V264D	probably damaging	Het
V1rd19	T	C	7: 24,003,289 (GRCm38)	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819 (GRCm38)	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,871,290 (GRCm38)	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,191,939 (GRCm38)	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,061,873 (GRCm38)	F802L	probably damaging	Het
Vmn2r61	A	G	7: 42,260,222 (GRCm38)	D57G	probably benign	Het
Vps13c	A	G	9: 67,878,131 (GRCm38)	N260S	probably damaging	Het
Xirp1	C	A	9: 120,019,602 (GRCm38)	A72S	probably damaging	Het
Zfp212	T	C	6: 47,929,077 (GRCm38)	V190A	probably benign	Het
Zfp703	C	T	8: 26,979,205 (GRCm38)	P299L	probably damaging	Het

Other mutations in Stk38l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Stk38l	APN	6	146,758,473 (GRCm38)	start codon destroyed	probably null	0.05
IGL00976:Stk38l	APN	6	146,775,402 (GRCm38)	missense	probably benign	0.37
IGL01607:Stk38l	APN	6	146,772,227 (GRCm38)	splice site	probably benign
IGL01607:Stk38l	APN	6	146,771,654 (GRCm38)	missense	probably damaging	0.99
IGL02552:Stk38l	APN	6	146,767,533 (GRCm38)	missense	probably damaging	1.00
IGL02582:Stk38l	APN	6	146,766,823 (GRCm38)	critical splice donor site	probably null
IGL03036:Stk38l	APN	6	146,768,874 (GRCm38)	missense	probably damaging	1.00
R0445:Stk38l	UTSW	6	146,775,686 (GRCm38)	missense	probably benign
R1518:Stk38l	UTSW	6	146,771,631 (GRCm38)	missense	probably benign	0.09
R2117:Stk38l	UTSW	6	146,768,846 (GRCm38)	missense	probably damaging	1.00
R5602:Stk38l	UTSW	6	146,758,500 (GRCm38)	missense	probably benign	0.39
R5652:Stk38l	UTSW	6	146,773,328 (GRCm38)	missense	possibly damaging	0.91
R6830:Stk38l	UTSW	6	146,766,771 (GRCm38)	missense	possibly damaging	0.88
R7572:Stk38l	UTSW	6	146,775,654 (GRCm38)	missense	probably damaging	1.00
R8028:Stk38l	UTSW	6	146,773,383 (GRCm38)	missense	probably damaging	1.00
R8120:Stk38l	UTSW	6	146,758,601 (GRCm38)	missense	probably benign
R8142:Stk38l	UTSW	6	146,758,572 (GRCm38)	missense	probably benign	0.33
R8483:Stk38l	UTSW	6	146,758,519 (GRCm38)	missense	possibly damaging	0.74
R9153:Stk38l	UTSW	6	146,758,550 (GRCm38)	missense	probably benign	0.10
R9706:Stk38l	UTSW	6	146,775,606 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGATGACTTCCCTGAGTCTGATATC -3'
(R):5'- AGCAGCCTCAGATTCCCAAG -3'

Sequencing Primer
(F):5'- CTGAGTCTGATATCTTACAGCCAGG -3'
(R):5'- AGATTCCCAAGCTGTAGTCG -3'

Posted On

2016-07-22