Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02215:Spatc1'

284861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spatc1

Ensembl Gene

ENSMUSG00000049653

Gene Name

spermatogenesis and centriole associated 1

Synonyms

1700084J23Rik, speriolin

Accession Numbers

Essential gene?

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

Stock #

IGL02215

Quality Score

Status

Chromosome

Chromosomal Location

76152289-76176772 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 76167739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074173

SMART Domains

Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653

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 benign
Transcript: ENSMUST00000230221

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,303,196 (GRCm39)	S378R	probably benign	Het
Abca14	T	A	7: 119,852,612 (GRCm39)	M859K	probably benign	Het
Adamts13	C	T	2: 26,875,495 (GRCm39)	P462S	probably damaging	Het
Apol7a	G	T	15: 77,277,690 (GRCm39)	D19E	possibly damaging	Het
Armc8	T	C	9: 99,366,031 (GRCm39)	N628D	possibly damaging	Het
Astn2	T	A	4: 66,184,471 (GRCm39)	I209F	unknown	Het
Atp10b	T	C	11: 43,085,492 (GRCm39)		probably null	Het
C4b	C	T	17: 34,953,465 (GRCm39)	C1006Y	probably damaging	Het
Capn13	A	G	17: 73,637,993 (GRCm39)	L470P	probably damaging	Het
Col4a4	T	C	1: 82,431,530 (GRCm39)	R1585G	unknown	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd3	C	T	15: 47,449,084 (GRCm39)	V3637M	probably damaging	Het
Dgki	C	T	6: 36,993,610 (GRCm39)	D584N	probably damaging	Het
Dmrt2	T	C	19: 25,655,498 (GRCm39)	S366P	probably damaging	Het
Dmtf1	A	C	5: 9,186,070 (GRCm39)	L172R	probably damaging	Het
Efhc2	A	G	X: 17,096,817 (GRCm39)	F177L	probably damaging	Het
Enpep	T	A	3: 129,063,926 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,967 (GRCm39)	D245V	probably damaging	Het
Fam199x	T	A	X: 135,963,399 (GRCm39)		probably benign	Het
Fkbp4	A	T	6: 128,411,433 (GRCm39)		probably benign	Het
Gas7	A	G	11: 67,534,158 (GRCm39)	H86R	probably benign	Het
Gcc2	A	G	10: 58,107,458 (GRCm39)	N862S	probably benign	Het
Gstm7	T	C	3: 107,837,594 (GRCm39)	D115G	possibly damaging	Het
Gtse1	C	A	15: 85,746,799 (GRCm39)	P205Q	possibly damaging	Het
H2bc1	A	T	13: 24,118,093 (GRCm39)	F16Y	probably benign	Het
Herc4	G	A	10: 63,109,345 (GRCm39)	M193I	probably benign	Het
Igfl3	T	A	7: 17,913,763 (GRCm39)	C38S	possibly damaging	Het
Il18rap	G	A	1: 40,587,082 (GRCm39)	D455N	probably damaging	Het
Ints8	A	G	4: 11,209,244 (GRCm39)	I932T	probably damaging	Het
Itgbl1	A	C	14: 124,209,553 (GRCm39)	I311L	probably benign	Het
Jmjd1c	A	T	10: 67,056,101 (GRCm39)	H794L	probably damaging	Het
Kif1a	A	G	1: 92,948,271 (GRCm39)	S1542P	probably benign	Het
Klc3	T	A	7: 19,129,750 (GRCm39)	N373I	probably damaging	Het
Lcn2	T	C	2: 32,274,877 (GRCm39)	*201W	probably null	Het
Ldhb	A	T	6: 142,441,292 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Npat	T	A	9: 53,470,417 (GRCm39)	S348T	probably benign	Het
Pclo	A	T	5: 14,906,999 (GRCm39)	D5001V	unknown	Het
Peg3	C	A	7: 6,712,010 (GRCm39)	A1071S	probably benign	Het
Piwil2	A	T	14: 70,628,822 (GRCm39)	D731E	possibly damaging	Het
Prss41	T	A	17: 24,062,830 (GRCm39)	D35V	probably benign	Het
Ptprz1	T	A	6: 22,965,181 (GRCm39)	D159E	possibly damaging	Het
Rabep1	C	T	11: 70,814,023 (GRCm39)	Q571*	probably null	Het
Scn8a	A	G	15: 100,927,453 (GRCm39)		probably null	Het
Sipa1l2	G	A	8: 126,174,576 (GRCm39)	T1234I	possibly damaging	Het
Slc5a10	T	A	11: 61,564,738 (GRCm39)	M414L	probably benign	Het
Smg5	T	C	3: 88,260,305 (GRCm39)	S632P	possibly damaging	Het
Smim15	A	G	13: 108,184,048 (GRCm39)	D18G	probably benign	Het
Sorl1	T	A	9: 41,929,478 (GRCm39)	I1132F	probably damaging	Het
Sytl2	A	T	7: 90,030,422 (GRCm39)		probably benign	Het
Tesc	A	G	5: 118,199,683 (GRCm39)	D195G	probably damaging	Het
Tmem39b	T	A	4: 129,586,311 (GRCm39)		probably null	Het
Vmn2r52	A	G	7: 9,905,029 (GRCm39)	V270A	probably damaging	Het
Wdr3	C	A	3: 100,054,016 (GRCm39)		probably null	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
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
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

Posted On

2015-04-16