Mutagenetix > Incidental Mutation

Incidental Mutation 'R1447:Tssk5'

160733

Institutional Source

Beutler Lab

Gene Symbol

Tssk5

Ensembl Gene

ENSMUSG00000060794

Gene Name

testis-specific serine kinase 5

Synonyms

1700091F14Rik

MMRRC Submission

039502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1447 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

76256152-76259138 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 76256304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 372 (Q372*)

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 null
Transcript: ENSMUST00000071119
AA Change: Q372*

SMART Domains

Protein: ENSMUSP00000071120
Gene: ENSMUSG00000060794
AA Change: Q372*

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: 98.8%
3x: 97.6%
10x: 93.8%
20x: 84.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,263,447 (GRCm39)	D603V	probably benign	Het
Ahnak	A	T	19: 8,984,446 (GRCm39)	E1910V	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amotl1	A	G	9: 14,467,038 (GRCm39)	V704A	probably benign	Het
Ankrd50	A	T	3: 38,509,691 (GRCm39)	V892E	probably damaging	Het
Aoc1	G	A	6: 48,883,176 (GRCm39)	V351I	probably benign	Het
Atp6v1b1	T	C	6: 83,734,924 (GRCm39)	V412A	possibly damaging	Het
Atp8b2	A	T	3: 89,851,477 (GRCm39)	I906N	probably damaging	Het
Bltp1	T	C	3: 37,019,735 (GRCm39)	L2048P	probably damaging	Het
Bnc2	A	G	4: 84,211,457 (GRCm39)	V304A	probably benign	Het
Btaf1	A	G	19: 36,969,854 (GRCm39)	D1176G	probably benign	Het
C1qtnf3	G	A	15: 10,952,735 (GRCm39)	G66R	probably damaging	Het
Ccdc162	T	C	10: 41,456,243 (GRCm39)	E360G	probably damaging	Het
Csmd1	C	A	8: 15,975,306 (GRCm39)	G2968*	probably null	Het
Cyp2j7	A	T	4: 96,083,530 (GRCm39)	F473L	possibly damaging	Het
Ddx24	T	C	12: 103,390,566 (GRCm39)	K142E	possibly damaging	Het
Dnah1	A	T	14: 31,028,855 (GRCm39)	M625K	probably benign	Het
Dnah9	A	T	11: 65,999,308 (GRCm39)	Y944N	possibly damaging	Het
Eef1akmt1	T	A	14: 57,803,441 (GRCm39)	K38*	probably null	Het
Enpp2	C	T	15: 54,782,994 (GRCm39)		probably null	Het
Eps8l1	A	G	7: 4,477,055 (GRCm39)	E508G	probably damaging	Het
Etaa1	A	T	11: 17,896,625 (GRCm39)	D497E	possibly damaging	Het
Fam181b	C	T	7: 92,729,368 (GRCm39)	A47V	probably damaging	Het
Fubp3	T	C	2: 31,490,559 (GRCm39)	V221A	probably damaging	Het
Golga2	T	C	2: 32,187,788 (GRCm39)	V191A	possibly damaging	Het
Haus5	G	T	7: 30,361,216 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,249,798 (GRCm39)	L2247P	probably damaging	Het
Lama5	A	C	2: 179,827,671 (GRCm39)	I2197S	probably damaging	Het
Mapre3	C	T	5: 31,019,151 (GRCm39)		probably benign	Het
Mast2	C	A	4: 116,169,210 (GRCm39)	M733I	probably benign	Het
Mphosph10	A	T	7: 64,030,698 (GRCm39)	F514I	probably damaging	Het
Mterf3	A	G	13: 67,065,103 (GRCm39)	L266P	probably damaging	Het
Nup205	A	G	6: 35,192,120 (GRCm39)	D1114G	probably benign	Het
Or1ak2	T	G	2: 36,827,788 (GRCm39)	V219G	possibly damaging	Het
Or1e21	A	G	11: 73,344,700 (GRCm39)	F113L	probably benign	Het
Phf24	G	T	4: 42,938,232 (GRCm39)	E119*	probably null	Het
Pik3r5	G	A	11: 68,385,003 (GRCm39)	R636Q	probably benign	Het
Plaat3	G	A	19: 7,556,598 (GRCm39)	R133H	probably benign	Het
Rida	T	A	15: 34,488,757 (GRCm39)	Q45L	possibly damaging	Het
Ros1	T	C	10: 51,974,954 (GRCm39)	T1544A	possibly damaging	Het
Rpl7	T	A	1: 16,172,821 (GRCm39)	Y166F	probably benign	Het
Rps6ka5	A	G	12: 100,544,084 (GRCm39)	I338T	probably benign	Het
Scn3a	A	T	2: 65,300,324 (GRCm39)	N1347K	probably damaging	Het
Serpinb6d	A	G	13: 33,854,739 (GRCm39)	D238G	probably benign	Het
Sh3rf2	T	A	18: 42,234,736 (GRCm39)	I173N	probably benign	Het
Smarcc2	T	C	10: 128,305,660 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,670,070 (GRCm39)	S1531P	possibly damaging	Het
Thsd4	T	C	9: 59,904,496 (GRCm39)	N567D	probably benign	Het
Tmprss13	C	A	9: 45,239,878 (GRCm39)	P62Q	unknown	Het
Tmprss7	T	C	16: 45,501,033 (GRCm39)	Q256R	probably benign	Het
Tssc4	A	G	7: 142,623,892 (GRCm39)	T67A	probably benign	Het
Usp47	G	T	7: 111,673,775 (GRCm39)		probably null	Het
Utp15	A	G	13: 98,389,386 (GRCm39)	I304T	possibly damaging	Het
Vmn1r35	A	C	6: 66,655,890 (GRCm39)	V93G	probably benign	Het
Zfhx3	A	C	8: 109,675,076 (GRCm39)	Q2042P	probably benign	Het
Zfp532	C	A	18: 65,758,061 (GRCm39)	R665S	probably damaging	Het
Zfp976	G	T	7: 42,262,023 (GRCm39)	P605T	possibly damaging	Het
Zfpl1	A	G	19: 6,132,649 (GRCm39)	V125A	possibly damaging	Het

Other mutations in Tssk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4497:Tssk5	UTSW	15	76,256,411 (GRCm39)	missense	probably damaging	0.99
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'- CACCGTGTAGACTAGTGTTTTCCCC -3'
(R):5'- ATCATTCCTGGTCCACAGTAGCCC -3'

Sequencing Primer
(F):5'- TGGCCCACCCTTGTAGATAG -3'
(R):5'- GTCCACAGTAGCCCCAGAC -3'

Posted On

2014-03-14