Mutagenetix > Incidental Mutation

Incidental Mutation 'R4497:Tssk5'

331040

Institutional Source

Beutler Lab

Gene Symbol

Tssk5

Ensembl Gene

ENSMUSG00000060794

Gene Name

testis-specific serine kinase 5

Synonyms

1700091F14Rik

MMRRC Submission

041750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4497 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76256152-76259138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76256411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 336 (D336G)

Ref Sequence

ENSEMBL: ENSMUSP00000071120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023213] [ENSMUST00000071119]

AlphaFold

Q8C1R0

Predicted Effect

probably benign
Transcript: ENSMUST00000023213

SMART Domains

Protein: ENSMUSP00000023213
Gene: ENSMUSG00000022554

Domain	Start	End	E-Value	Type
low complexity region	35	56	N/A	INTRINSIC
low complexity region	69	91	N/A	INTRINSIC
Pfam:DUF383	119	294	4e-57	PFAM
Pfam:DUF384	299	353	6.2e-22	PFAM
low complexity region	357	385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000071119
AA Change: D336G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071120
Gene: ENSMUSG00000060794
AA Change: D336G

Domain	Start	End	E-Value	Type
S_TKc	27	302	1.23e-82	SMART
low complexity region	341	358	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230436

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	G	A	15: 81,779,486 (GRCm39)	A97T	probably damaging	Het
Adat1	T	C	8: 112,705,994 (GRCm39)	S371G	probably benign	Het
Aoc3	T	G	11: 101,222,871 (GRCm39)	I369R	possibly damaging	Het
Apobr	A	T	7: 126,186,694 (GRCm39)		probably null	Het
Arhgap12	A	T	18: 6,111,774 (GRCm39)	C69S	probably damaging	Het
Astn2	A	G	4: 66,037,300 (GRCm39)		probably benign	Het
Bcas1	T	C	2: 170,248,741 (GRCm39)	D60G	probably damaging	Het
Cacnb4	T	A	2: 52,367,783 (GRCm39)	D62V	probably damaging	Het
Cbx8	C	A	11: 118,931,618 (GRCm39)	R20L	probably damaging	Het
Ccdc92	G	A	5: 124,913,337 (GRCm39)	T64M	probably benign	Het
Cps1	G	T	1: 67,244,358 (GRCm39)	S1135I	probably null	Het
Eml2	G	A	7: 18,913,275 (GRCm39)	R91H	probably damaging	Het
Fbxl3	G	A	14: 103,320,313 (GRCm39)	P426L	probably damaging	Het
Fhod3	T	A	18: 25,243,296 (GRCm39)		probably null	Het
Gabrb2	T	C	11: 42,488,521 (GRCm39)	I329T	probably benign	Het
Gli3	T	A	13: 15,898,156 (GRCm39)	D745E	possibly damaging	Het
Itprid2	T	A	2: 79,488,164 (GRCm39)	V749E	probably damaging	Het
Lacc1	T	A	14: 77,271,470 (GRCm39)	N239I	probably damaging	Het
Lamb2	T	A	9: 108,363,997 (GRCm39)	C1008S	probably damaging	Het
Man2b1	G	A	8: 85,817,565 (GRCm39)	V349I	probably benign	Het
Mib1	A	G	18: 10,811,985 (GRCm39)	T961A	possibly damaging	Het
Mmp24	A	G	2: 155,655,908 (GRCm39)	I449V	possibly damaging	Het
Myo7b	A	G	18: 32,147,282 (GRCm39)	I87T	probably benign	Het
Or13c7b	A	G	4: 43,821,175 (GRCm39)	F62S	probably damaging	Het
Or5p72	T	A	7: 108,022,122 (GRCm39)	C115S	probably benign	Het
Pgr	A	G	9: 8,958,420 (GRCm39)	E809G	probably damaging	Het
Ppp1r3g	T	A	13: 36,153,603 (GRCm39)	V341E	probably benign	Het
Prkdc	T	A	16: 15,518,517 (GRCm39)	S1091T	probably benign	Het
Rab44	G	A	17: 29,358,871 (GRCm39)	R353K	probably benign	Het
Reck	G	A	4: 43,891,001 (GRCm39)	M46I	probably benign	Het
Rorb	G	T	19: 18,954,992 (GRCm39)	S208Y	possibly damaging	Het
Serinc2	G	T	4: 130,147,847 (GRCm39)	T410N	possibly damaging	Het
Slc23a2	G	A	2: 131,898,702 (GRCm39)	R612*	probably null	Het
Slx4	T	C	16: 3,812,773 (GRCm39)	E145G	probably damaging	Het
Spag16	A	G	1: 70,532,989 (GRCm39)	D556G	probably damaging	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Tmf1	A	T	6: 97,149,293 (GRCm39)	F485I	probably benign	Het
Trmo	C	T	4: 46,382,140 (GRCm39)	V326M	probably damaging	Het
Ttyh2	A	T	11: 114,601,789 (GRCm39)	Q471L	possibly damaging	Het
Wdr33	A	C	18: 32,026,132 (GRCm39)	Q944H	unknown	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Zbtb18	A	T	1: 177,274,687 (GRCm39)	S7C	probably damaging	Het
Zfhx4	G	A	3: 5,464,680 (GRCm39)	V1638M	possibly damaging	Het
Zfp81	A	T	17: 33,553,677 (GRCm39)	I379N	possibly damaging	Het

Other mutations in Tssk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1447:Tssk5	UTSW	15	76,256,304 (GRCm39)	nonsense	probably null
R1543:Tssk5	UTSW	15	76,256,409 (GRCm39)	missense	probably benign	0.01
R1649:Tssk5	UTSW	15	76,258,003 (GRCm39)	missense	possibly damaging	0.66
R1907:Tssk5	UTSW	15	76,257,093 (GRCm39)	missense	probably benign	0.01
R2391:Tssk5	UTSW	15	76,258,751 (GRCm39)	missense	probably benign	0.00
R3729:Tssk5	UTSW	15	76,257,096 (GRCm39)	missense	probably benign	0.00
R4453:Tssk5	UTSW	15	76,258,743 (GRCm39)	missense	probably benign
R4576:Tssk5	UTSW	15	76,256,668 (GRCm39)	missense	probably benign	0.06
R4621:Tssk5	UTSW	15	76,256,668 (GRCm39)	missense	probably benign	0.06
R4623:Tssk5	UTSW	15	76,256,668 (GRCm39)	missense	probably benign	0.06
R4967:Tssk5	UTSW	15	76,258,856 (GRCm39)	missense	possibly damaging	0.94
R6109:Tssk5	UTSW	15	76,257,916 (GRCm39)	missense	probably damaging	1.00
R6220:Tssk5	UTSW	15	76,257,973 (GRCm39)	missense	probably damaging	1.00
R6951:Tssk5	UTSW	15	76,257,096 (GRCm39)	missense	possibly damaging	0.70
R7012:Tssk5	UTSW	15	76,257,745 (GRCm39)	missense	probably damaging	1.00
R7366:Tssk5	UTSW	15	76,258,713 (GRCm39)	missense	probably benign	0.00
R9284:Tssk5	UTSW	15	76,257,168 (GRCm39)	missense	probably benign	0.13
R9339:Tssk5	UTSW	15	76,257,156 (GRCm39)	missense	possibly damaging	0.86
R9496:Tssk5	UTSW	15	76,258,856 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACCCTCAATTCAGCAGAGAGTG -3'
(R):5'- TGCAGAACACATGCTGTCC -3'

Sequencing Primer
(F):5'- CCAGCCATGTTCCTGTTAGGG -3'
(R):5'- AGAACACATGCTGTCCTCTGC -3'

Posted On

2015-07-21