Mutagenetix > Incidental Mutation

Incidental Mutation 'R5623:Sgk3'

441664

Institutional Source

Beutler Lab

Gene Symbol

Sgk3

Ensembl Gene

ENSMUSG00000025915

Gene Name

serum/glucocorticoid regulated kinase 3

Synonyms

cytokine-independent survival kinase, fy, A330005P07Rik, 2510015P22Rik, Cisk

MMRRC Submission

043162-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R5623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9868332-9971070 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 9872520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166384] [ENSMUST00000168907] [ENSMUST00000188298] [ENSMUST00000188738] [ENSMUST00000188782]

AlphaFold

Q9ERE3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000063059

Predicted Effect

probably benign
Transcript: ENSMUST00000166384

SMART Domains

Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915

Domain	Start	End	E-Value	Type
PX	13	120	3.9e-19	SMART
S_TKc	162	419	1.07e-105	SMART
S_TK_X	420	489	1.96e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168907

SMART Domains

Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915

Domain	Start	End	E-Value	Type
PX	13	120	3.9e-19	SMART
S_TKc	162	419	1.07e-105	SMART
S_TK_X	420	489	1.96e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188298

SMART Domains

Protein: ENSMUSP00000139942
Gene: ENSMUSG00000025915

Domain	Start	End	E-Value	Type
Pfam:PX	11	66	4.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188625

Predicted Effect

probably benign
Transcript: ENSMUST00000188738

SMART Domains

Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915

Domain	Start	End	E-Value	Type
PX	13	120	2.4e-21	SMART
S_TKc	162	333	2.1e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188782

SMART Domains

Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915

Domain	Start	End	E-Value	Type
PX	13	120	2.4e-21	SMART
S_TKc	162	343	4.3e-9	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (65/66)

MGI Phenotype

PHENOTYPE: Mutations in this gene result in wavy vibrissae and coat/ hair abnormalities, including sparse and waved hair, due to impaired hair follicle development and/or hair cycle defects. [provided by MGI curators]

Allele List at MGI

All alleles(16) : Targeted, knock-out(2) Gene trapped(7) Spontaneous(7)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b1	T	G	18: 64,679,165 (GRCm39)	Q772P	possibly damaging	Het
B3gnt2	C	G	11: 22,787,018 (GRCm39)	A57P	probably damaging	Het
Birc6	T	G	17: 74,835,651 (GRCm39)	D63E	probably damaging	Het
Ccdc13	T	C	9: 121,662,799 (GRCm39)	E72G	probably damaging	Het
Cfap221	C	T	1: 119,881,898 (GRCm39)	A297T	probably benign	Het
Chd1	T	A	17: 15,975,194 (GRCm39)	N1081K	probably damaging	Het
Chrm3	C	A	13: 9,927,423 (GRCm39)	V538L	possibly damaging	Het
Clec16a	T	A	16: 10,428,985 (GRCm39)	N37K	probably benign	Het
Cnksr3	T	A	10: 7,070,548 (GRCm39)	I229F	probably damaging	Het
Cspg4b	T	C	13: 113,483,168 (GRCm39)	I1590T	possibly damaging	Het
Dchs1	T	C	7: 105,421,976 (GRCm39)	E148G	probably damaging	Het
Diaph1	A	T	18: 38,029,146 (GRCm39)		probably benign	Het
Dis3l	A	G	9: 64,214,885 (GRCm39)	F895L	possibly damaging	Het
Dnah1	G	T	14: 31,007,980 (GRCm39)	D2142E	possibly damaging	Het
Dst	T	C	1: 34,229,214 (GRCm39)	V1944A	possibly damaging	Het
Eif4a2	C	T	16: 22,928,969 (GRCm39)		probably benign	Het
Ephb6	T	A	6: 41,593,415 (GRCm39)	M487K	probably benign	Het
Fgf18	T	G	11: 33,084,272 (GRCm39)	T61P	probably damaging	Het
G6pc2	A	G	2: 69,056,927 (GRCm39)	E191G	probably damaging	Het
Gm10717	C	T	9: 3,026,318 (GRCm39)	S55L	probably benign	Het
Gm5414	A	G	15: 101,534,246 (GRCm39)	F286S	probably damaging	Het
Gpcpd1	G	T	2: 132,376,637 (GRCm39)	A553E	probably damaging	Het
Gpr153	A	G	4: 152,366,398 (GRCm39)	D321G	possibly damaging	Het
Hecw2	T	A	1: 53,871,782 (GRCm39)	Q1388L	probably null	Het
Ighv14-3	A	C	12: 114,023,710 (GRCm39)	S36A	probably damaging	Het
Inpp5j	C	A	11: 3,444,766 (GRCm39)	G969V	probably damaging	Het
Kat5	G	A	19: 5,657,590 (GRCm39)	R307W	probably damaging	Het
Klk1b21	A	G	7: 43,754,989 (GRCm39)	S95G	probably damaging	Het
Mdm1	G	A	10: 117,986,694 (GRCm39)	V171I	possibly damaging	Het
Nfu1	TCGC	T	6: 86,993,188 (GRCm39)		probably benign	Het
Or5k8	C	T	16: 58,644,706 (GRCm39)	R122H	probably benign	Het
Or6c206	G	A	10: 129,096,901 (GRCm39)	V24M	probably benign	Het
Phkb	T	A	8: 86,569,677 (GRCm39)		probably benign	Het
Pkd1l3	A	T	8: 110,350,351 (GRCm39)	T399S	possibly damaging	Het
Prr14l	A	T	5: 33,001,852 (GRCm39)		probably benign	Het
Psg21	A	C	7: 18,388,939 (GRCm39)	L51R	probably damaging	Het
Ptprg	T	A	14: 12,153,857 (GRCm38)	I526N	probably damaging	Het
Rab1a	T	C	11: 20,151,626 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,342,011 (GRCm39)	Q620L	probably damaging	Het
Rnf215	T	G	11: 4,085,453 (GRCm39)	S58A	probably benign	Het
Scaper	A	C	9: 55,771,791 (GRCm39)	V375G	probably benign	Het
Skic2	T	C	17: 35,066,408 (GRCm39)	K192E	probably benign	Het
Slc34a3	T	A	2: 25,123,312 (GRCm39)		probably null	Het
Sspn	T	A	6: 145,906,952 (GRCm39)	C52S	probably damaging	Het
Strip1	T	C	3: 107,534,142 (GRCm39)	E164G	possibly damaging	Het
Sult5a1	A	C	8: 123,884,181 (GRCm39)	S47A	probably damaging	Het
Svep1	T	C	4: 58,091,964 (GRCm39)	D1557G	possibly damaging	Het
Tdrd6	T	C	17: 43,940,224 (GRCm39)	I275V	probably damaging	Het
Thada	C	T	17: 84,499,411 (GRCm39)	V1929I	probably benign	Het
Tmem132b	G	A	5: 125,700,416 (GRCm39)	R318Q	probably damaging	Het
Tmem176b	T	G	6: 48,811,004 (GRCm39)	I259L	probably benign	Het
Tmppe	C	A	9: 114,234,964 (GRCm39)	P421Q	possibly damaging	Het
Tmprss11e	G	A	5: 86,857,315 (GRCm39)	Q333*	probably null	Het
Tpcn2	T	A	7: 144,821,071 (GRCm39)	R328W	possibly damaging	Het
Trem1	C	T	17: 48,544,083 (GRCm39)	T36I	probably damaging	Het
Trpm2	C	A	10: 77,767,973 (GRCm39)	R842L	probably damaging	Het
Zfp319	A	G	8: 96,052,199 (GRCm39)		probably benign	Het

Other mutations in Sgk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Sgk3	APN	1	9,938,609 (GRCm39)	missense	probably damaging	1.00
IGL00906:Sgk3	APN	1	9,947,470 (GRCm39)	missense	probably benign	0.00
IGL01683:Sgk3	APN	1	9,952,091 (GRCm39)	missense	probably damaging	1.00
IGL02803:Sgk3	APN	1	9,949,273 (GRCm39)	missense	possibly damaging	0.76
woolly	UTSW	1	9,956,329 (GRCm39)	missense	probably damaging	1.00
R0034:Sgk3	UTSW	1	9,955,902 (GRCm39)	missense	probably damaging	1.00
R0034:Sgk3	UTSW	1	9,955,902 (GRCm39)	missense	probably damaging	1.00
R0374:Sgk3	UTSW	1	9,949,306 (GRCm39)	splice site	probably null
R0526:Sgk3	UTSW	1	9,951,804 (GRCm39)	missense	probably damaging	1.00
R1483:Sgk3	UTSW	1	9,942,518 (GRCm39)	missense	possibly damaging	0.80
R1992:Sgk3	UTSW	1	9,950,567 (GRCm39)	missense	possibly damaging	0.52
R2073:Sgk3	UTSW	1	9,961,649 (GRCm39)	missense	probably benign	0.01
R4590:Sgk3	UTSW	1	9,969,020 (GRCm39)	missense	possibly damaging	0.94
R5436:Sgk3	UTSW	1	9,952,097 (GRCm39)	missense	probably damaging	1.00
R5511:Sgk3	UTSW	1	9,968,911 (GRCm39)	intron	probably benign
R5936:Sgk3	UTSW	1	9,956,045 (GRCm39)	intron	probably benign
R6778:Sgk3	UTSW	1	9,956,369 (GRCm39)	critical splice donor site	probably null
R6842:Sgk3	UTSW	1	9,968,979 (GRCm39)	missense	probably benign
R7055:Sgk3	UTSW	1	9,956,284 (GRCm39)	missense	probably damaging	1.00
R7186:Sgk3	UTSW	1	9,956,227 (GRCm39)	missense	probably benign	0.00
R7336:Sgk3	UTSW	1	9,954,701 (GRCm39)	missense	possibly damaging	0.88
R7429:Sgk3	UTSW	1	9,942,483 (GRCm39)	missense	probably benign	0.00
R7430:Sgk3	UTSW	1	9,942,483 (GRCm39)	missense	probably benign	0.00
R7787:Sgk3	UTSW	1	9,952,016 (GRCm39)	missense	probably damaging	1.00
R8949:Sgk3	UTSW	1	9,938,699 (GRCm39)	splice site	probably benign
R9269:Sgk3	UTSW	1	9,942,534 (GRCm39)	missense	probably benign	0.41
R9487:Sgk3	UTSW	1	9,950,616 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTCGCTCCATTAAACTGCAG -3'
(R):5'- CAGCATGTTACCACAGTATATCGAC -3'

Sequencing Primer
(F):5'- TCGCTCCATTAAACTGCAGGAGTC -3'
(R):5'- ACAGTATATCGACCAGTCCGTGTG -3'

Posted On

2016-11-08