Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03231:Rps6ka6'

413917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps6ka6

Ensembl Gene

ENSMUSG00000025665

Gene Name

ribosomal protein S6 kinase polypeptide 6

Synonyms

2610524K04Rik, RSK4

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03231

Quality Score

Status

Chromosome

Chromosomal Location

110297889-110447656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110360018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 43 (T43S)

Ref Sequence

ENSEMBL: ENSMUSP00000121489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065976] [ENSMUST00000082034] [ENSMUST00000096348] [ENSMUST00000113428] [ENSMUST00000123102] [ENSMUST00000123213] [ENSMUST00000123951] [ENSMUST00000128819] [ENSMUST00000132319] [ENSMUST00000138645] [ENSMUST00000137712] [ENSMUST00000156639]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065976
AA Change: T55S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068483
Gene: ENSMUSG00000025665
AA Change: T55S

Domain	Start	End	E-Value	Type
S_TKc	110	367	7.35e-104	SMART
S_TK_X	368	429	4.94e-18	SMART
S_TKc	463	715	3.9e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000082034
AA Change: T134S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080694
Gene: ENSMUSG00000025665
AA Change: T134S

Domain	Start	End	E-Value	Type
S_TKc	189	446	7.35e-104	SMART
S_TK_X	447	508	4.94e-18	SMART
S_TKc	542	799	5.08e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096348
AA Change: T55S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094073
Gene: ENSMUSG00000025665
AA Change: T55S

Domain	Start	End	E-Value	Type
S_TKc	110	367	7.35e-104	SMART
S_TK_X	368	429	4.94e-18	SMART
S_TKc	463	720	5.08e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113428
AA Change: T55S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109055
Gene: ENSMUSG00000025665
AA Change: T55S

Domain	Start	End	E-Value	Type
S_TKc	110	367	7.35e-104	SMART
S_TK_X	368	429	4.94e-18	SMART
S_TKc	463	715	3.06e-92	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000123102
AA Change: N37I

Predicted Effect

probably benign
Transcript: ENSMUST00000123213
AA Change: T55S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118075
Gene: ENSMUSG00000025665
AA Change: T55S

Domain	Start	End	E-Value	Type
PDB:4GUE\|A	89	163	2e-36	PDB
SCOP:d1f3mc_	94	163	2e-14	SMART
Blast:S_TKc	110	163	2e-28	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123951
AA Change: T134S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000128819
AA Change: T134S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117228
Gene: ENSMUSG00000025665
AA Change: T134S

Domain	Start	End	E-Value	Type
Blast:STYKc	110	203	4e-25	BLAST
PDB:4GUE\|A	168	203	9e-13	PDB
SCOP:d1f3mc_	173	203	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132319
AA Change: T133S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000138645
AA Change: T43S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121489
Gene: ENSMUSG00000025665
AA Change: T43S

Domain	Start	End	E-Value	Type
Pfam:Pkinase	98	162	3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137712

SMART Domains

Protein: ENSMUSP00000121722
Gene: ENSMUSG00000025665

Domain	Start	End	E-Value	Type
S_TKc	89	346	7.35e-104	SMART
S_TK_X	347	408	4.94e-18	SMART
S_TKc	442	699	5.08e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156639

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit a possible gastrulation defect, primitive streak and node defects, failure of chorioallantoic fusion, impaired embryo turning, posterior truncation, abnormal heart development, and microcephaly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,046,094 (GRCm39)	F277V	probably damaging	Het
Arel1	T	A	12: 84,981,084 (GRCm39)	T308S	probably benign	Het
Asic1	T	A	15: 99,596,983 (GRCm39)	H548Q	probably benign	Het
B3galt1	T	C	2: 67,948,947 (GRCm39)	Y221H	probably damaging	Het
Bltp2	A	G	11: 78,159,528 (GRCm39)	T526A	probably benign	Het
Brs3	G	T	X: 56,090,804 (GRCm39)	C221F	probably benign	Het
Capn7	G	A	14: 31,077,247 (GRCm39)	G322R	probably damaging	Het
Ccdc138	T	C	10: 58,409,528 (GRCm39)	L619P	probably damaging	Het
Cdh22	C	T	2: 164,958,126 (GRCm39)	V614I	probably benign	Het
Dnah5	C	T	15: 28,311,294 (GRCm39)	R1758W	probably damaging	Het
Dr1	T	C	5: 108,423,474 (GRCm39)	V87A	probably benign	Het
F830045P16Rik	A	G	2: 129,302,393 (GRCm39)	S400P	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,147 (GRCm39)	E1478G	possibly damaging	Het
Fyb2	T	A	4: 104,843,460 (GRCm39)	Y353*	probably null	Het
Gm28043	A	G	17: 29,854,916 (GRCm39)	D457G	probably damaging	Het
Gsap	T	C	5: 21,434,164 (GRCm39)	V260A	probably damaging	Het
Kcnt2	A	T	1: 140,461,740 (GRCm39)		probably benign	Het
Magee2	A	T	X: 103,899,944 (GRCm39)	L236M	probably damaging	Het
Map4k3	A	T	17: 80,905,104 (GRCm39)	V729E	probably damaging	Het
Myh13	A	G	11: 67,242,817 (GRCm39)	E910G	possibly damaging	Het
Nbeal1	G	T	1: 60,275,618 (GRCm39)	A651S	probably benign	Het
Nhsl3	C	T	4: 129,117,474 (GRCm39)	V385I	possibly damaging	Het
Nuak2	A	T	1: 132,255,915 (GRCm39)	D188V	probably damaging	Het
Nup210l	A	G	3: 90,096,852 (GRCm39)	T1354A	probably damaging	Het
Or10q1	A	T	19: 13,726,749 (GRCm39)	Q93L	probably benign	Het
Pof1b	C	T	X: 111,554,987 (GRCm39)	S506N	possibly damaging	Het
Prrt3	A	G	6: 113,474,485 (GRCm39)	S246P	possibly damaging	Het
Slc19a2	G	T	1: 164,088,449 (GRCm39)	W98L	probably damaging	Het
Snap29	C	T	16: 17,244,964 (GRCm39)	S195L	probably benign	Het
Stt3b	C	T	9: 115,073,062 (GRCm39)	G815S	unknown	Het
Tm9sf2	T	G	14: 122,378,664 (GRCm39)	I256R	possibly damaging	Het
Tpbpb	A	T	13: 61,049,996 (GRCm39)	N44K	probably damaging	Het
Trim13	A	G	14: 61,842,994 (GRCm39)	E337G	probably benign	Het
Trmt6	A	T	2: 132,657,756 (GRCm39)	D33E	probably benign	Het
Trpm6	T	A	19: 18,796,545 (GRCm39)	S800R	probably benign	Het
V1rd19	A	G	7: 23,703,328 (GRCm39)	I265V	probably benign	Het
Xkrx	A	G	X: 133,051,391 (GRCm39)	L420P	probably damaging	Het
Zfp618	T	C	4: 63,012,716 (GRCm39)	Y167H	probably damaging	Het

Other mutations in Rps6ka6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Rps6ka6	APN	X	110,360,059 (GRCm39)	splice site	probably benign
IGL01696:Rps6ka6	APN	X	110,317,214 (GRCm39)	missense	probably benign	0.00
R1840:Rps6ka6	UTSW	X	110,330,629 (GRCm39)	missense	possibly damaging	0.48
X0063:Rps6ka6	UTSW	X	110,322,396 (GRCm39)	splice site	probably null

Posted On

2016-08-02