Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01128:Stkld1'

50585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stkld1

Ensembl Gene

ENSMUSG00000049897

Gene Name

serine/threonine kinase-like domain containing 1

Synonyms

LOC279029, Gm711

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01128

Quality Score

Status

Chromosome

Chromosomal Location

26934047-26953496 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26951471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 476 (W476L)

Ref Sequence

ENSEMBL: ENSMUSP00000062967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000064244] [ENSMUST00000114020] [ENSMUST00000136710]

AlphaFold

Q80YS9

Predicted Effect

probably benign
Transcript: ENSMUST00000055406
AA Change: W476L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: W476L

Domain	Start	End	E-Value	Type
Pfam:Pkinase	3	266	8e-35	PFAM
Pfam:Pkinase_Tyr	7	262	4.5e-27	PFAM
low complexity region	352	366	N/A	INTRINSIC
low complexity region	446	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064244

SMART Domains

Protein: ENSMUSP00000070815
Gene: ENSMUSG00000052406

Domain	Start	End	E-Value	Type
low complexity region	16	34	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
EXOIII	229	390	2.55e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114020

SMART Domains

Protein: ENSMUSP00000109653
Gene: ENSMUSG00000052406

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	39	57	N/A	INTRINSIC
low complexity region	203	220	N/A	INTRINSIC
EXOIII	252	413	2.55e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135752

Predicted Effect

probably benign
Transcript: ENSMUST00000136710

SMART Domains

Protein: ENSMUSP00000121599
Gene: ENSMUSG00000052406

Domain	Start	End	E-Value	Type
low complexity region	16	34	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
EXOIII	229	363	1.57e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145546

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,422,509	D75Y	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ahi1	A	G	10: 21,074,433	T128A	probably benign	Het
Bves	T	A	10: 45,353,848	F249L	probably damaging	Het
Capns1	T	C	7: 30,190,133	I214V	probably benign	Het
Cgnl1	G	T	9: 71,724,561	Q503K	possibly damaging	Het
Ep300	A	G	15: 81,630,006		probably benign	Het
Fam117b	T	A	1: 59,969,018	F337Y	probably damaging	Het
Fam178b	A	T	1: 36,644,354	V95E	probably damaging	Het
Gak	T	A	5: 108,592,370	M560L	probably damaging	Het
Gna11	C	A	10: 81,530,884	A331S	probably damaging	Het
Gtf3c3	A	C	1: 54,428,876	F201V	possibly damaging	Het
Kat6b	G	A	14: 21,660,860	R734H	probably benign	Het
Lag3	T	C	6: 124,909,417	D191G	probably damaging	Het
Mttp	T	A	3: 138,133,997		probably null	Het
Nlgn3	A	T	X: 101,320,092	T790S	probably benign	Het
Olfr1487	G	A	19: 13,619,746	E195K	probably damaging	Het
Olfr743	A	G	14: 50,533,949	D179G	probably damaging	Het
Pkd2l2	T	A	18: 34,417,015	Y238N	probably damaging	Het
Plg	A	T	17: 12,396,699		probably benign	Het
Ptprm	A	T	17: 67,042,101	C376S	probably damaging	Het
Rexo1	T	C	10: 80,549,739	D495G	probably benign	Het
Rims1	A	T	1: 22,534,175	V315D	probably damaging	Het
Ros1	G	A	10: 52,142,328	Q745*	probably null	Het
Satb1	A	G	17: 51,805,289	V99A	probably damaging	Het
Sema3e	C	T	5: 14,232,115	P422S	probably damaging	Het
Syna	T	C	5: 134,559,480	D205G	probably damaging	Het
Tas2r134	G	T	2: 51,627,659	C50F	probably damaging	Het
Togaram1	A	G	12: 64,980,876	T880A	probably benign	Het
Uckl1	T	C	2: 181,570,337	E363G	probably damaging	Het
Yeats2	T	A	16: 20,161,968		probably benign	Het

Other mutations in Stkld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Stkld1	APN	2	26946659	missense	probably benign	0.04
IGL02393:Stkld1	APN	2	26950142	missense	probably benign	0.41
IGL03136:Stkld1	APN	2	26951423	missense	probably benign	0.00
IGL03261:Stkld1	APN	2	26952777	missense	probably benign	0.21
R0067:Stkld1	UTSW	2	26949340	missense	probably benign	0.01
R0067:Stkld1	UTSW	2	26949340	missense	probably benign	0.01
R0973:Stkld1	UTSW	2	26951450	missense	probably benign	0.00
R1065:Stkld1	UTSW	2	26940038	missense	probably damaging	0.97
R1467:Stkld1	UTSW	2	26949395	missense	probably benign	0.00
R1467:Stkld1	UTSW	2	26949395	missense	probably benign	0.00
R1565:Stkld1	UTSW	2	26950090	missense	probably benign	0.00
R1844:Stkld1	UTSW	2	26950103	missense	probably damaging	1.00
R1871:Stkld1	UTSW	2	26937973	unclassified	probably benign
R1965:Stkld1	UTSW	2	26946732	splice site	probably null
R2001:Stkld1	UTSW	2	26952747	missense	probably damaging	1.00
R2308:Stkld1	UTSW	2	26952714	missense	probably damaging	0.98
R2566:Stkld1	UTSW	2	26950638	missense	probably damaging	1.00
R3929:Stkld1	UTSW	2	26940047	critical splice donor site	probably null
R4257:Stkld1	UTSW	2	26943134	missense	probably benign	0.02
R4493:Stkld1	UTSW	2	26946626	missense	probably benign	0.00
R4494:Stkld1	UTSW	2	26946626	missense	probably benign	0.00
R4589:Stkld1	UTSW	2	26950667	missense	probably damaging	1.00
R4775:Stkld1	UTSW	2	26951745	missense	probably damaging	0.99
R5601:Stkld1	UTSW	2	26952705	missense	probably damaging	1.00
R5707:Stkld1	UTSW	2	26943987	missense	probably damaging	1.00
R6259:Stkld1	UTSW	2	26949381	missense	possibly damaging	0.70
R6306:Stkld1	UTSW	2	26943887	missense	probably damaging	0.98
R6349:Stkld1	UTSW	2	26945860	missense	probably benign	0.00
R6418:Stkld1	UTSW	2	26941081	missense	possibly damaging	0.47
R6806:Stkld1	UTSW	2	26943910	missense	probably benign	0.01
R7079:Stkld1	UTSW	2	26949347	missense	probably benign	0.00
R7199:Stkld1	UTSW	2	26952714	missense	probably damaging	0.98
R7522:Stkld1	UTSW	2	26947247	missense	probably benign	0.13
R7556:Stkld1	UTSW	2	26947295	missense	possibly damaging	0.74
R7813:Stkld1	UTSW	2	26945876	nonsense	probably null
R8165:Stkld1	UTSW	2	26946656	missense	probably benign	0.01
R8330:Stkld1	UTSW	2	26951503	missense	probably benign	0.00
R8709:Stkld1	UTSW	2	26945805	missense	probably benign	0.03
R8935:Stkld1	UTSW	2	26943929	nonsense	probably null
R9137:Stkld1	UTSW	2	26950560	missense	probably benign	0.00

Posted On

2013-06-21