Mutagenetix > Incidental Mutation

Incidental Mutation 'R6620:Spatc1l'

528136

Institutional Source

Beutler Lab

Gene Symbol

Spatc1l

Ensembl Gene

ENSMUSG00000009115

Gene Name

spermatogenesis and centriole associated 1 like

Synonyms

1700022B01Rik, 1700027D21Rik

MMRRC Submission

044743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6620 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76398106-76406035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76405756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 320 (D320G)

Ref Sequence

ENSEMBL: ENSMUSP00000009259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009259] [ENSMUST00000105414]

AlphaFold

Q9D9W0

Predicted Effect

probably damaging
Transcript: ENSMUST00000009259
AA Change: D320G

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

SMART Domains

Protein: ENSMUSP00000009259
Gene: ENSMUSG00000009115
AA Change: D320G

Domain	Start	End	E-Value	Type
Pfam:Speriolin_N	1	155	1.9e-49	PFAM
Pfam:Speriolin_C	197	342	3e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105414

SMART Domains

Protein: ENSMUSP00000101054
Gene: ENSMUSG00000009115

Domain	Start	End	E-Value	Type
Pfam:Speriolin_N	1	155	3.6e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136382

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	T	3: 36,120,294 (GRCm39)	A13S	possibly damaging	Het
Ahnak	G	A	19: 8,992,674 (GRCm39)	E4653K	possibly damaging	Het
Apc2	C	T	10: 80,149,401 (GRCm39)	P1485L	probably damaging	Het
Atp9b	A	T	18: 80,851,902 (GRCm39)	L397*	probably null	Het
Ces1e	C	A	8: 93,950,546 (GRCm39)	K79N	probably damaging	Het
Col12a1	A	C	9: 79,527,331 (GRCm39)	I2666M	probably damaging	Het
Dock10	T	A	1: 80,570,355 (GRCm39)	N361I	probably benign	Het
Dock3	C	A	9: 106,815,125 (GRCm39)	M1247I	probably benign	Het
Evi5l	C	A	8: 4,256,674 (GRCm39)	A720E	possibly damaging	Het
F5	T	C	1: 164,014,375 (GRCm39)	F549L	probably damaging	Het
Gpx2	T	C	12: 76,839,674 (GRCm39)	N108S	possibly damaging	Het
Ifnar1	T	C	16: 91,293,155 (GRCm39)		probably null	Het
Kcnj16	T	C	11: 110,915,473 (GRCm39)	V45A	probably damaging	Het
Kng1	T	C	16: 22,900,232 (GRCm39)	L402P	possibly damaging	Het
Lct	C	A	1: 128,222,809 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,112,888 (GRCm39)	K106N	probably benign	Het
Map3k13	A	T	16: 21,711,061 (GRCm39)	I115F	possibly damaging	Het
Mapre2	T	C	18: 23,991,002 (GRCm39)	V123A	probably benign	Het
Mtfr1l	A	G	4: 134,256,394 (GRCm39)		probably null	Het
Or10g6	T	A	9: 39,934,225 (GRCm39)	C179S	probably damaging	Het
Or4c99	A	G	2: 88,356,743 (GRCm39)	Y272C	probably damaging	Het
Pbxip1	G	A	3: 89,355,133 (GRCm39)	V551I	probably benign	Het
Pcdha8	T	C	18: 37,125,581 (GRCm39)	I21T	probably benign	Het
Plekha5	G	A	6: 140,518,601 (GRCm39)	R296Q	probably damaging	Het
Psme2	A	C	14: 55,825,928 (GRCm39)	D126E	probably damaging	Het
Psmg2	T	C	18: 67,774,807 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,291,629 (GRCm39)		probably null	Het
Sdr39u1	C	T	14: 56,135,172 (GRCm39)	R257H	probably damaging	Het
Sorbs2	G	T	8: 46,249,213 (GRCm39)	R802S	probably damaging	Het
Spata31	A	G	13: 65,067,571 (GRCm39)	N78D	possibly damaging	Het
Ttc8	T	C	12: 98,923,579 (GRCm39)	Y212H	possibly damaging	Het
Vmn2r112	G	A	17: 22,822,082 (GRCm39)	M253I	probably benign	Het
Zbed5	A	G	5: 129,932,130 (GRCm39)	E693G	possibly damaging	Het
Zfp808	T	A	13: 62,320,638 (GRCm39)	N622K	probably benign	Het

Other mutations in Spatc1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Spatc1l	APN	10	76,405,490 (GRCm39)	splice site	probably benign
R0587:Spatc1l	UTSW	10	76,400,011 (GRCm39)	missense	possibly damaging	0.76
R1079:Spatc1l	UTSW	10	76,399,741 (GRCm39)	missense	probably damaging	1.00
R1909:Spatc1l	UTSW	10	76,399,751 (GRCm39)	missense	probably damaging	0.99
R2050:Spatc1l	UTSW	10	76,399,892 (GRCm39)	missense	probably damaging	1.00
R3786:Spatc1l	UTSW	10	76,399,736 (GRCm39)	missense	probably benign	0.00
R4016:Spatc1l	UTSW	10	76,398,323 (GRCm39)	missense	probably benign	0.00
R4803:Spatc1l	UTSW	10	76,405,206 (GRCm39)	missense	probably damaging	1.00
R6896:Spatc1l	UTSW	10	76,405,242 (GRCm39)	missense	probably damaging	1.00
R7143:Spatc1l	UTSW	10	76,405,765 (GRCm39)	missense	probably damaging	1.00
R7832:Spatc1l	UTSW	10	76,398,224 (GRCm39)	missense	probably benign	0.02
R9285:Spatc1l	UTSW	10	76,398,264 (GRCm39)	missense	probably damaging	1.00
R9293:Spatc1l	UTSW	10	76,405,200 (GRCm39)	missense	probably damaging	1.00
R9774:Spatc1l	UTSW	10	76,405,168 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATCGCTATCTGACTCTGACGG -3'
(R):5'- CCCTCAAAGAGCCAGAGGTAAG -3'

Sequencing Primer
(F):5'- CCTATGGCATCCTGAAGC -3'
(R):5'- AGCTTTTAATAAGGCAACAGGTG -3'

Posted On

2018-07-24