Mutagenetix > Incidental Mutation

Incidental Mutation 'R7787:Sgk3'

599560

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

045843-MU

Accession Numbers

Essential gene?

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

Stock #

R7787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9868332-9971070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9952016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 214 (L214P)

Ref Sequence

ENSEMBL: ENSMUSP00000095437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097826] [ENSMUST00000166384] [ENSMUST00000168907] [ENSMUST00000171265] [ENSMUST00000188298] [ENSMUST00000188738] [ENSMUST00000188782]

AlphaFold

Q9ERE3

PDB Structure

crystal structure of CISK-PX domain [X-RAY DIFFRACTION]
crystal structure of CISK-PX domain with sulfates [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000097826
AA Change: L214P

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

SMART Domains

Protein: ENSMUSP00000095437
Gene: ENSMUSG00000025915
AA Change: L214P

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 damaging
Transcript: ENSMUST00000166384
AA Change: L214P

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

SMART Domains

Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915
AA Change: L214P

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 damaging
Transcript: ENSMUST00000168907
AA Change: L214P

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

SMART Domains

Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915
AA Change: L214P

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 damaging
Transcript: ENSMUST00000171265
AA Change: L214P

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

SMART Domains

Protein: ENSMUSP00000127462
Gene: ENSMUSG00000025915
AA Change: L214P

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

probably damaging
Transcript: ENSMUST00000188738
AA Change: L214P

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

SMART Domains

Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915
AA Change: L214P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188782
AA Change: L214P

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

SMART Domains

Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915
AA Change: L214P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,263,926 (GRCm39)	I38N	probably damaging	Het
Abcb4	G	A	5: 8,959,220 (GRCm39)	V216M	probably damaging	Het
Abcc2	G	A	19: 43,772,685 (GRCm39)	V32M	probably damaging	Het
Adgrb3	C	A	1: 25,471,625 (GRCm39)	V714F	probably damaging	Het
Ahnak	T	A	19: 8,986,679 (GRCm39)	D2654E	unknown	Het
Ak8	T	A	2: 28,602,324 (GRCm39)	I86N	probably damaging	Het
Apob	G	A	12: 8,040,780 (GRCm39)	R635Q	probably damaging	Het
Atp10b	G	A	11: 43,150,700 (GRCm39)	R1466H	possibly damaging	Het
Bltp1	A	C	3: 36,939,557 (GRCm39)	H137P	probably damaging	Het
Btnl9	T	C	11: 49,066,866 (GRCm39)	T252A	unknown	Het
Cacna1e	T	A	1: 154,358,314 (GRCm39)	I648F	probably damaging	Het
Camkk1	A	G	11: 72,917,412 (GRCm39)	D121G	probably benign	Het
Cc2d1a	C	A	8: 84,860,144 (GRCm39)	Q904H	possibly damaging	Het
Cd1d1	A	G	3: 86,904,903 (GRCm39)	S212P	probably damaging	Het
Cfap69	C	T	5: 5,639,260 (GRCm39)	C638Y	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Clca4a	A	G	3: 144,659,594 (GRCm39)	V754A	probably benign	Het
Cnpy4	T	A	5: 138,190,900 (GRCm39)	H187Q	probably benign	Het
Cpne5	A	T	17: 29,407,261 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,767,515 (GRCm39)	N359K	probably benign	Het
Cyb561	A	T	11: 105,828,466 (GRCm39)	L63H	probably damaging	Het
Dock4	A	G	12: 40,775,676 (GRCm39)	T540A	probably benign	Het
Edc4	T	A	8: 106,614,146 (GRCm39)	Y7*	probably null	Het
Fstl5	A	C	3: 76,337,131 (GRCm39)	D230A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hecw1	T	C	13: 14,493,494 (GRCm39)	Q337R	probably damaging	Het
Hmcn1	A	T	1: 150,632,343 (GRCm39)	Y865N	probably damaging	Het
Hyal6	A	G	6: 24,743,735 (GRCm39)	Y477C	probably damaging	Het
Ifi205	C	T	1: 173,842,640 (GRCm39)	G352E	probably damaging	Het
Ifi205	T	A	1: 173,842,644 (GRCm39)	S351C	probably damaging	Het
Irak3	C	A	10: 120,012,256 (GRCm39)	Q169H	probably benign	Het
Itgb1	T	A	8: 129,453,499 (GRCm39)	N99K	probably benign	Het
Kng2	A	G	16: 22,818,598 (GRCm39)	F298S	probably damaging	Het
Kri1	T	C	9: 21,192,380 (GRCm39)	E256G		Het
Lamc3	T	C	2: 31,790,551 (GRCm39)	I257T	probably damaging	Het
Mas1	A	C	17: 13,061,374 (GRCm39)	N16K	possibly damaging	Het
Mdn1	T	A	4: 32,741,794 (GRCm39)	L3855Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybph	G	A	1: 134,125,246 (GRCm39)	G258D	probably benign	Het
Mycbp2	A	C	14: 103,364,533 (GRCm39)	H4358Q	probably damaging	Het
Nat10	T	C	2: 103,552,208 (GRCm39)	D1012G	unknown	Het
Nub1	C	A	5: 24,913,801 (GRCm39)	Q561K	probably benign	Het
Nynrin	A	G	14: 56,107,980 (GRCm39)	N1029S	probably benign	Het
Or52x1	A	T	7: 104,853,252 (GRCm39)	C99*	probably null	Het
Or56a4	T	G	7: 104,806,401 (GRCm39)	I163L	probably benign	Het
Or5k15	A	G	16: 58,709,953 (GRCm39)	F210S	probably benign	Het
Or6e1	A	G	14: 54,520,169 (GRCm39)	L61P	probably damaging	Het
Or8g19	C	T	9: 39,055,548 (GRCm39)	L51F	probably benign	Het
Pcsk1	T	A	13: 75,280,277 (GRCm39)	Y701N	possibly damaging	Het
Pglyrp4	C	G	3: 90,640,295 (GRCm39)	H182D	probably damaging	Het
Phaf1	T	G	8: 105,957,820 (GRCm39)	V42G	probably damaging	Het
Pkp4	C	A	2: 59,152,881 (GRCm39)	D576E	probably damaging	Het
Plec	A	G	15: 76,083,811 (GRCm39)	V17A	unknown	Het
Polq	T	A	16: 36,837,671 (GRCm39)	N194K	probably damaging	Het
Pou4f1	A	T	14: 104,703,460 (GRCm39)	M324K	unknown	Het
Ppa2	G	T	3: 133,036,259 (GRCm39)	G138W	probably damaging	Het
Prob1	A	T	18: 35,785,285 (GRCm39)	F990I	possibly damaging	Het
Proser1	T	A	3: 53,380,969 (GRCm39)	I182N	probably damaging	Het
Sipa1l1	T	C	12: 82,496,762 (GRCm39)	S1765P	possibly damaging	Het
Slc15a2	G	A	16: 36,572,228 (GRCm39)	S712L	probably benign	Het
Slc38a9	T	C	13: 112,825,880 (GRCm39)	L106P	probably damaging	Het
Slc43a2	G	A	11: 75,453,900 (GRCm39)	R271H	probably damaging	Het
Spsb4	T	A	9: 96,877,643 (GRCm39)	I227F	probably damaging	Het
Srgap3	C	T	6: 112,752,520 (GRCm39)	M321I	probably benign	Het
Stam2	T	C	2: 52,596,418 (GRCm39)	I340V	probably benign	Het
Tbc1d5	T	A	17: 51,181,711 (GRCm39)	R341*	probably null	Het
Terf2ip	A	C	8: 112,742,087 (GRCm39)	E260D	probably damaging	Het
Tert	G	T	13: 73,797,051 (GRCm39)	K1096N	probably damaging	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Ube3d	T	A	9: 86,254,395 (GRCm39)	Q362L	possibly damaging	Het
Unc5c	G	A	3: 141,474,313 (GRCm39)	G295D	probably damaging	Het
Wnt7b	T	A	15: 85,428,112 (GRCm39)	I117F	probably damaging	Het
Zcchc7	T	C	4: 44,895,043 (GRCm39)		probably null	Het
Zfp619	A	G	7: 39,186,226 (GRCm39)	Q752R	possibly damaging	Het
Zkscan3	T	C	13: 21,572,034 (GRCm39)	K533E	possibly damaging	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
R5623:Sgk3	UTSW	1	9,872,520 (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
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'- TTCTTGCAAAACGGAAACTGG -3'
(R):5'- TGAGGTCCACTGACTACTGTC -3'

Sequencing Primer
(F):5'- CGGAAACTGGATGGAAAATTTTATGC -3'
(R):5'- TCTCCAACGGCTGTCGGTAG -3'

Posted On

2019-11-26