Mutagenetix > Incidental Mutation

Incidental Mutation 'R2921:Spatc1'

255546

Institutional Source

Beutler Lab

Gene Symbol

Spatc1

Ensembl Gene

ENSMUSG00000049653

Gene Name

spermatogenesis and centriole associated 1

Synonyms

1700084J23Rik, speriolin

MMRRC Submission

040506-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76152289-76176772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76168125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 195 (S195P)

Ref Sequence

ENSEMBL: ENSMUSP00000155378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074173
AA Change: S195P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653
AA Change: S195P

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

probably damaging
Transcript: ENSMUST00000230221
AA Change: S195P

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,393 (GRCm39)	D90G	possibly damaging	Het
Adipor1	T	C	1: 134,353,731 (GRCm39)	V172A	possibly damaging	Het
Akt2	A	G	7: 27,328,411 (GRCm39)	K146R	probably benign	Het
Atg4a	T	C	X: 139,941,768 (GRCm39)	V284A	possibly damaging	Het
Atp6v0a2	C	T	5: 124,794,981 (GRCm39)	T656M	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc116	T	C	16: 16,960,307 (GRCm39)	H170R	probably benign	Het
Ccn5	G	A	2: 163,674,266 (GRCm39)	R222Q	probably benign	Het
Cemip2	A	G	19: 21,795,303 (GRCm39)	D732G	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dpm3	C	T	3: 89,174,062 (GRCm39)	L8F	probably damaging	Het
Fhl3	T	C	4: 124,599,463 (GRCm39)	S13P	probably damaging	Het
Fndc1	A	G	17: 8,023,707 (GRCm39)	S83P	probably damaging	Het
Gapvd1	A	T	2: 34,578,875 (GRCm39)	I1249N	probably damaging	Het
Gbp7	A	T	3: 142,240,333 (GRCm39)	E17V	probably benign	Het
Gm57858	T	C	3: 36,080,077 (GRCm39)	M227V	probably null	Het
Golga4	T	A	9: 118,388,411 (GRCm39)	S1844R	possibly damaging	Het
Grm7	T	A	6: 111,472,866 (GRCm39)		probably null	Het
Hdc	G	A	2: 126,435,910 (GRCm39)	P654S	probably damaging	Het
Hgd	T	C	16: 37,439,330 (GRCm39)	F213L	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Mboat2	T	A	12: 25,004,239 (GRCm39)	W347R	probably damaging	Het
Mlkl	T	C	8: 112,043,079 (GRCm39)	E356G	probably benign	Het
Ncor2	A	G	5: 125,132,855 (GRCm39)	F44S	probably damaging	Het
Nipal3	A	T	4: 135,204,776 (GRCm39)	I125N	probably damaging	Het
Nr1h4	A	T	10: 89,334,223 (GRCm39)	Y42N	probably damaging	Het
Nup155	A	C	15: 8,183,125 (GRCm39)	E1228D	probably damaging	Het
Or4c113	A	G	2: 88,884,843 (GRCm39)	V309A	probably benign	Het
Pde4dip	T	C	3: 97,626,885 (GRCm39)	N1218D	probably benign	Het
Ralgps1	A	T	2: 33,033,082 (GRCm39)	I449N	probably damaging	Het
Rdm1	T	A	11: 101,521,716 (GRCm39)	L157H	possibly damaging	Het
Rfx7	G	A	9: 72,524,946 (GRCm39)	G712D	possibly damaging	Het
Rnf151	C	T	17: 24,935,235 (GRCm39)	G232D	possibly damaging	Het
Rpl22	C	A	4: 152,412,002 (GRCm39)	T26N	possibly damaging	Het
Rptn	A	G	3: 93,306,015 (GRCm39)	Y1116C	possibly damaging	Het
Safb2	A	G	17: 56,875,906 (GRCm39)	V89A	possibly damaging	Het
Setx	TGTGG	TG	2: 29,044,072 (GRCm39)		probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc24a2	A	G	4: 86,909,591 (GRCm39)	V660A	possibly damaging	Het
Slc26a2	T	A	18: 61,335,007 (GRCm39)	I149F	probably damaging	Het
Slc6a15	A	G	10: 103,254,248 (GRCm39)	D728G	probably damaging	Het
Slfn3	A	G	11: 83,105,871 (GRCm39)	M623V	probably benign	Het
Smim1	A	G	4: 154,108,097 (GRCm39)		probably benign	Het
Tmx1	T	A	12: 70,512,895 (GRCm39)	C268S	probably benign	Het
Trpc6	A	T	9: 8,653,034 (GRCm39)	L613F	possibly damaging	Het
Vmn2r60	T	A	7: 41,790,459 (GRCm39)	V482E	probably damaging	Het
Zdhhc18	G	T	4: 133,360,455 (GRCm39)	H82Q	probably benign	Het
Zfp507	T	C	7: 35,494,224 (GRCm39)	E273G	probably damaging	Het

Other mutations in Spatc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Spatc1	APN	15	76,168,994 (GRCm39)	missense	probably damaging	1.00
IGL02215:Spatc1	APN	15	76,167,739 (GRCm39)	splice site	probably benign
IGL02678:Spatc1	APN	15	76,176,572 (GRCm39)	missense	probably damaging	1.00
R0452:Spatc1	UTSW	15	76,152,493 (GRCm39)	missense	probably damaging	1.00
R1972:Spatc1	UTSW	15	76,169,075 (GRCm39)	splice site	probably null
R2066:Spatc1	UTSW	15	76,167,737 (GRCm39)	splice site	probably null
R3689:Spatc1	UTSW	15	76,152,495 (GRCm39)	nonsense	probably null
R3690:Spatc1	UTSW	15	76,152,495 (GRCm39)	nonsense	probably null
R4519:Spatc1	UTSW	15	76,176,685 (GRCm39)	missense	probably damaging	1.00
R5944:Spatc1	UTSW	15	76,168,138 (GRCm39)	missense	probably damaging	1.00
R7008:Spatc1	UTSW	15	76,167,923 (GRCm39)	missense	probably benign	0.00
R7034:Spatc1	UTSW	15	76,168,080 (GRCm39)	missense	probably benign	0.00
R7036:Spatc1	UTSW	15	76,168,080 (GRCm39)	missense	probably benign	0.00
R7436:Spatc1	UTSW	15	76,152,568 (GRCm39)	missense	probably benign	0.21
R8510:Spatc1	UTSW	15	76,176,512 (GRCm39)	missense	probably damaging	1.00
R9675:Spatc1	UTSW	15	76,152,520 (GRCm39)	missense	probably damaging	0.99
X0023:Spatc1	UTSW	15	76,152,572 (GRCm39)	missense	possibly damaging	0.87
Z1177:Spatc1	UTSW	15	76,168,053 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGCTACTCTTAACCCAC -3'
(R):5'- TTGGGCACTACGTTCTGAGC -3'

Sequencing Primer
(F):5'- GGCCAAATACCCTTGTTGCAG -3'
(R):5'- TACGTTCTGAGCAACACCTAGAGG -3'

Posted On

2014-12-29