Mutagenetix > Incidental Mutations

Incidental Mutation 'R3689:Spatc1'

269689

Institutional Source

Beutler Lab

Gene Symbol

Spatc1

Ensembl Gene

ENSMUSG00000049653

Gene Name

spermatogenesis and centriole associated 1

Synonyms

speriolin, 1700084J23Rik

MMRRC Submission

040684-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R3689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76268089-76292572 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 76268295 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 42 (K42*)

Ref Sequence

ENSEMBL: ENSMUSP00000155378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074173] [ENSMUST00000230221]

Predicted Effect

probably null
Transcript: ENSMUST00000074173
AA Change: K42*

SMART Domains

Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653
AA Change: K42*

Domain	Start	End	E-Value	Type
Pfam:Speriolin_N	1	176	5.1e-67	PFAM
Pfam:Speriolin_N	172	262	1.2e-25	PFAM
Pfam:Speriolin_C	334	480	1.5e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175179

Predicted Effect

probably null
Transcript: ENSMUST00000230221
AA Change: K42*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232408

Meta Mutation Damage Score

0.9650

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	C	9: 92,352,620	N60T	probably damaging	Het
Adcy2	A	T	13: 68,630,969	L984Q	probably damaging	Het
Atg16l1	T	C	1: 87,785,904	V427A	probably damaging	Het
Bclaf1	C	T	10: 20,325,397	T423I	possibly damaging	Het
Blm	G	C	7: 80,513,079	P175A	possibly damaging	Het
Bpifb1	A	G	2: 154,209,899	D208G	probably benign	Het
Cdc42ep1	T	C	15: 78,847,429	S25P	probably benign	Het
Cep162	G	A	9: 87,225,694	Q548*	probably null	Het
Chchd10	T	C	10: 75,936,001		probably benign	Het
Cog3	T	C	14: 75,754,438	M1V	probably null	Het
Dcx	T	C	X: 143,877,244	E268G	possibly damaging	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Erich2	T	C	2: 70,540,753	V419A	unknown	Het
Fam129a	A	G	1: 151,703,696		probably null	Het
Fam53c	A	G	18: 34,770,833	D386G	probably damaging	Het
Fgd2	A	G	17: 29,378,950	T620A	probably benign	Het
G930045G22Rik	A	T	6: 50,846,555		noncoding transcript	Het
Grpel1	G	A	5: 36,469,425		probably null	Het
Map3k15	T	A	X: 160,122,572	N1295K	possibly damaging	Het
Mrpl44	T	A	1: 79,779,649	Y270*	probably null	Het
Mtss1	A	G	15: 58,953,536	S272P	probably damaging	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
N4bp1	C	T	8: 86,860,556	D585N	probably damaging	Het
Napb	T	C	2: 148,703,057		probably null	Het
Nexmif	A	T	X: 104,087,607	Y235N	probably damaging	Het
Nms	T	C	1: 38,946,994		probably benign	Het
Nsun2	A	G	13: 69,612,337	N45D	probably damaging	Het
Olfr1221	T	A	2: 89,112,042	I157L	possibly damaging	Het
Pak6	C	T	2: 118,693,440	Q359*	probably null	Het
Pcdhb12	C	T	18: 37,436,074	A91V	probably benign	Het
Pde11a	T	A	2: 76,291,166	K357I	probably damaging	Het
Piwil4	T	C	9: 14,725,963	T352A	probably damaging	Het
Sec31a	T	A	5: 100,382,907	D239V	probably damaging	Het
Slc13a4	T	C	6: 35,268,910	N600S	possibly damaging	Het
Smc1b	T	A	15: 85,117,263		probably benign	Het
Sprr2j-ps	A	G	3: 92,418,983	H55R	probably benign	Het
Srsf9	A	G	5: 115,327,328	D7G	probably benign	Het
Stt3a	T	C	9: 36,759,322	Y51C	probably damaging	Het
Taf5	A	G	19: 47,078,785	K519E	probably damaging	Het
Taf7l	A	T	X: 134,464,325	I449K	probably damaging	Het
Tnk1	C	A	11: 69,855,599	D263Y	probably damaging	Het
Ttc21b	T	A	2: 66,224,144	I714F	probably benign	Het
Ttn	C	G	2: 76,799,244	W14284C	probably damaging	Het
Txn1	T	C	4: 57,950,846	D61G	probably benign	Het
Ugcg	T	C	4: 59,211,883	V83A	probably benign	Het
Ulk3	T	C	9: 57,593,794	V348A	probably benign	Het
Wdr93	A	G	7: 79,771,585	T409A	possibly damaging	Het
Wfikkn1	A	G	17: 25,878,718	C211R	probably damaging	Het
Zap70	T	C	1: 36,781,412	C563R	probably damaging	Het
Zc3h12c	C	T	9: 52,115,956	R721H	probably benign	Het
Zfp169	A	G	13: 48,506,901		probably benign	Het

Other mutations in Spatc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Spatc1	APN	15	76284794	missense	probably damaging	1.00
IGL02215:Spatc1	APN	15	76283539	splice site	probably benign
IGL02678:Spatc1	APN	15	76292372	missense	probably damaging	1.00
R0452:Spatc1	UTSW	15	76268293	missense	probably damaging	1.00
R1972:Spatc1	UTSW	15	76284875	intron	probably null
R2066:Spatc1	UTSW	15	76283537	splice site	probably null
R2921:Spatc1	UTSW	15	76283925	missense	probably damaging	1.00
R3690:Spatc1	UTSW	15	76268295	nonsense	probably null
R4519:Spatc1	UTSW	15	76292485	missense	probably damaging	1.00
R5944:Spatc1	UTSW	15	76283938	missense	probably damaging	1.00
R7008:Spatc1	UTSW	15	76283723	missense	probably benign	0.00
R7034:Spatc1	UTSW	15	76283880	missense	probably benign	0.00
R7036:Spatc1	UTSW	15	76283880	missense	probably benign	0.00
R7436:Spatc1	UTSW	15	76268368	missense	probably benign	0.21
X0023:Spatc1	UTSW	15	76268372	missense	possibly damaging	0.87
Z1177:Spatc1	UTSW	15	76283853	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTGGTGGCCTTTTCCAG -3'
(R):5'- AGGCCAATGTCCTCTGTTTG -3'

Sequencing Primer
(F):5'- TTTTCCAGCCCGGGCAAG -3'
(R):5'- CAATTTCTTCAGACCCCAGCATC -3'

Posted On

2015-02-19