Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Stk38l'

298161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stk38l

Ensembl Gene

ENSMUSG00000001630

Gene Name

serine/threonine kinase 38 like

Synonyms

Ndr2, 4930473A22Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

146626493-146680310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146669031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 170 (L170F)

Ref Sequence

ENSEMBL: ENSMUSP00000107271 (fasta)

Gene Model

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

AlphaFold

Q7TSE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000001675
AA Change: L170F

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

SMART Domains

Protein: ENSMUSP00000001675
Gene: ENSMUSG00000001630
AA Change: L170F

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 damaging
Transcript: ENSMUST00000111644
AA Change: L170F

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

SMART Domains

Protein: ENSMUSP00000107271
Gene: ENSMUSG00000001630
AA Change: L170F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203084

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,145 (GRCm39)	L178S	probably damaging	Het
Abca12	A	G	1: 71,333,906 (GRCm39)	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Apc	T	A	18: 34,446,035 (GRCm39)	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,235,324 (GRCm39)	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Astn1	C	T	1: 158,332,965 (GRCm39)	S349F	possibly damaging	Het
Bard1	T	C	1: 71,104,815 (GRCm39)		probably benign	Het
Batf2	T	A	19: 6,221,537 (GRCm39)	Y116N	probably benign	Het
Bltp3b	T	A	10: 89,642,605 (GRCm39)	L10*	probably null	Het
Cbx6	T	C	15: 79,713,094 (GRCm39)	H111R	probably damaging	Het
Cd44	T	A	2: 102,679,076 (GRCm39)	N242I	probably benign	Het
Cdnf	C	T	2: 3,525,012 (GRCm39)	Q184*	probably null	Het
Chd2	C	A	7: 73,097,068 (GRCm39)		probably benign	Het
Cmtm6	G	A	9: 114,566,374 (GRCm39)	V88M	probably damaging	Het
Col24a1	C	A	3: 145,179,962 (GRCm39)	S1151R	possibly damaging	Het
Csta2	A	G	16: 36,073,459 (GRCm39)	E15G	probably damaging	Het
Degs1l	T	A	1: 180,882,463 (GRCm39)	V75E	possibly damaging	Het
Dnajc2	T	C	5: 21,988,061 (GRCm39)	D6G	probably damaging	Het
Eif3a	G	A	19: 60,751,664 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,254,633 (GRCm39)	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,523,286 (GRCm39)	D1380E	probably damaging	Het
Fry	A	T	5: 150,304,375 (GRCm39)	K588N	probably damaging	Het
Gm18856	G	A	13: 14,139,805 (GRCm39)		probably benign	Het
Gpr37	G	T	6: 25,688,686 (GRCm39)	T137K	probably benign	Het
Gzmc	T	C	14: 56,472,039 (GRCm39)	M1V	probably null	Het
Htr5a	T	C	5: 28,047,958 (GRCm39)	V171A	probably benign	Het
Ints6l	T	C	X: 55,500,557 (GRCm39)		probably benign	Het
Kcnma1	C	T	14: 23,436,327 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,983,899 (GRCm39)	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,063,057 (GRCm39)	V668I	possibly damaging	Het
Nlrp1b	C	T	11: 71,072,878 (GRCm39)	V322I	possibly damaging	Het
Ntf3	T	C	6: 126,078,823 (GRCm39)	N228D	probably damaging	Het
Nup133	G	A	8: 124,655,994 (GRCm39)	R496W	possibly damaging	Het
Or4c10	T	C	2: 89,760,903 (GRCm39)	V250A	probably benign	Het
Or51i1	C	A	7: 103,671,463 (GRCm39)	G21W	probably damaging	Het
Pah	C	T	10: 87,414,707 (GRCm39)		probably benign	Het
Pan2	G	T	10: 128,154,896 (GRCm39)	W1112L	probably damaging	Het
Pkn3	G	A	2: 29,970,879 (GRCm39)	R209Q	probably damaging	Het
Plaa	C	T	4: 94,470,717 (GRCm39)		probably null	Het
Qprt	C	T	7: 126,708,027 (GRCm39)	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,582,204 (GRCm39)	S108A	probably damaging	Het
Smg1	T	A	7: 117,795,117 (GRCm39)		probably benign	Het
Spink5	T	A	18: 44,125,235 (GRCm39)	C368S	possibly damaging	Het
Sptan1	T	A	2: 29,908,486 (GRCm39)	I1734N	probably damaging	Het
Tesmin	C	T	19: 3,452,483 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,949,530 (GRCm39)	C1697*	probably null	Het
Tmco4	T	C	4: 138,785,690 (GRCm39)	S587P	probably benign	Het
Tmem208	G	A	8: 106,055,329 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,121,623 (GRCm39)	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,682,699 (GRCm39)	D390V	probably damaging	Het
Uba7	A	G	9: 107,858,589 (GRCm39)	I807V	probably benign	Het
Utp18	C	A	11: 93,759,160 (GRCm39)	C438F	probably damaging	Het
Vps13d	T	C	4: 144,899,707 (GRCm39)	K191E	possibly damaging	Het
Wdr27	A	G	17: 15,146,453 (GRCm39)	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	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
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
R0445:Stk38l	UTSW	6	146,677,184 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16