Mutagenetix > Incidental Mutation

Incidental Mutation 'R5944:Spatc1'

460497

Institutional Source

Beutler Lab

Gene Symbol

Spatc1

Ensembl Gene

ENSMUSG00000049653

Gene Name

spermatogenesis and centriole associated 1

Synonyms

1700084J23Rik, speriolin

MMRRC Submission

044136-MU

Accession Numbers

Essential gene?

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

Stock #

R5944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76152289-76176772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76168138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 199 (L199P)

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: L199P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653
AA Change: L199P

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: L199P

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

Meta Mutation Damage Score

0.0907

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

86% (51/59)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	T	5: 114,384,041 (GRCm39)	R2190L	probably damaging	Het
Ankrd17	C	T	5: 90,433,702 (GRCm39)	R689H	probably damaging	Het
Apol7b	A	T	15: 77,307,967 (GRCm39)	V176E	probably damaging	Het
Arsg	T	C	11: 109,426,137 (GRCm39)	F319S	probably damaging	Het
Bcar3	T	A	3: 122,316,932 (GRCm39)	D634E	probably benign	Het
Bend7	T	C	2: 4,749,167 (GRCm39)	W95R	probably damaging	Het
Cenpj	A	G	14: 56,791,115 (GRCm39)		probably null	Het
Cfap91	G	T	16: 38,148,672 (GRCm39)	T252N	probably damaging	Het
Clasrp	A	T	7: 19,328,431 (GRCm39)	Y116N	probably damaging	Het
Cldn17	T	C	16: 88,303,597 (GRCm39)	E44G	probably damaging	Het
Cyfip1	G	A	7: 55,521,878 (GRCm39)	E61K	probably damaging	Het
Dcaf13	A	C	15: 39,010,072 (GRCm39)	M419L	probably benign	Het
Eml4	A	G	17: 83,753,472 (GRCm39)	D269G	possibly damaging	Het
Fap	T	C	2: 62,372,605 (GRCm39)	Y258C	probably damaging	Het
Fdxr	T	A	11: 115,160,672 (GRCm39)	T288S	probably benign	Het
Frs3	T	C	17: 48,003,233 (GRCm39)		probably benign	Het
Gm5581	T	A	6: 131,145,363 (GRCm39)		noncoding transcript	Het
Gm7964	A	G	7: 83,405,743 (GRCm39)	D187G	probably benign	Het
Gpc5	T	C	14: 115,607,250 (GRCm39)	V284A	probably benign	Het
Hspa9	T	C	18: 35,082,076 (GRCm39)	T177A	possibly damaging	Het
Ifi202b	T	A	1: 173,791,365 (GRCm39)	M438L	probably benign	Het
Ighv1-3	T	C	12: 114,445,239 (GRCm39)		probably benign	Het
Krt36	G	T	11: 99,996,139 (GRCm39)	A95E	probably benign	Het
Krt9	C	T	11: 100,079,265 (GRCm39)	S709N	unknown	Het
Lmntd1	A	T	6: 145,373,042 (GRCm39)	S164T	probably damaging	Het
Or14c41	T	A	7: 86,234,486 (GRCm39)	M1K	probably null	Het
Or2ag1b	A	T	7: 106,288,853 (GRCm39)	C28*	probably null	Het
Or52n4b	G	A	7: 108,144,484 (GRCm39)	A249T	possibly damaging	Het
Or5b94	C	T	19: 12,652,283 (GRCm39)	T238I	probably damaging	Het
Or7a41	A	T	10: 78,871,223 (GRCm39)	M198L	probably benign	Het
Papola	T	A	12: 105,778,644 (GRCm39)	F341I	possibly damaging	Het
Phf3	A	G	1: 30,859,785 (GRCm39)	L914P	probably damaging	Het
Sec24d	T	C	3: 123,087,230 (GRCm39)	V132A	probably benign	Het
Serpini1	G	A	3: 75,547,606 (GRCm39)	D373N	probably damaging	Het
Sigirr	T	C	7: 140,671,300 (GRCm39)	Y394C	probably damaging	Het
Slc29a4	G	A	5: 142,704,573 (GRCm39)	E372K	probably damaging	Het
Slc7a4	C	T	16: 17,392,220 (GRCm39)	V405I	possibly damaging	Het
Srgap3	T	C	6: 112,772,775 (GRCm39)	M149V	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stat3	C	T	11: 100,785,931 (GRCm39)	A449T	probably damaging	Het
Stat4	A	G	1: 52,113,898 (GRCm39)	N203D	probably damaging	Het
Tanc1	T	C	2: 59,667,564 (GRCm39)		probably null	Het
Trav3-1	T	C	14: 52,818,449 (GRCm39)	I41T	probably benign	Het
Usp34	T	A	11: 23,313,089 (GRCm39)	D525E	probably damaging	Het
Vars1	T	C	17: 35,232,620 (GRCm39)	V848A	probably damaging	Het
Vmn2r101	A	T	17: 19,809,769 (GRCm39)	D185V	probably benign	Het
Wiz	A	G	17: 32,576,671 (GRCm39)	S628P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
R2921:Spatc1	UTSW	15	76,168,125 (GRCm39)	missense	probably damaging	1.00
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
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'- TTGTGCCATGCTCCATGAG -3'
(R):5'- AAAGTTTCCTCGGGTAGGCTC -3'

Sequencing Primer
(F):5'- TCCATGAGCAACCAACTGAC -3'
(R):5'- ACCCTTGGCGTCTCTGG -3'

Posted On

2017-02-28