Mutagenetix > Incidental Mutation

Incidental Mutation 'R0587:Spatc1l'

55814

Institutional Source

Beutler Lab

Gene Symbol

Spatc1l

Ensembl Gene

ENSMUSG00000009115

Gene Name

spermatogenesis and centriole associated 1 like

Synonyms

1700022B01Rik, 1700027D21Rik

MMRRC Submission

038777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76398106-76406035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76400011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 178 (R178G)

Ref Sequence

ENSEMBL: ENSMUSP00000009259 (fasta)

Gene Model

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

AlphaFold

Q9D9W0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009259
AA Change: R178G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000009259
Gene: ENSMUSG00000009115
AA Change: R178G

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: ENSMUST00000127576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136382

Meta Mutation Damage Score

0.5494

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

94% (34/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	T	C	17: 36,203,855 (GRCm39)	*212W	probably null	Het
Abca1	A	G	4: 53,107,035 (GRCm39)	Y231H	probably benign	Het
Abca5	T	G	11: 110,202,203 (GRCm39)	I401L	probably benign	Het
Ak2	A	G	4: 128,896,171 (GRCm39)	D112G	probably damaging	Het
Ankrd60	T	A	2: 173,410,644 (GRCm39)	D292V	possibly damaging	Het
Bank1	A	G	3: 135,919,798 (GRCm39)		probably benign	Het
Bod1l	G	A	5: 41,978,980 (GRCm39)	S778L	probably benign	Het
Cep76	C	A	18: 67,756,245 (GRCm39)	E529*	probably null	Het
Col24a1	T	C	3: 144,998,906 (GRCm39)	V13A	possibly damaging	Het
Ctsc	T	A	7: 87,946,437 (GRCm39)	H154Q	probably benign	Het
Ctsf	A	G	19: 4,905,766 (GRCm39)	E87G	probably benign	Het
Dmxl1	A	T	18: 50,068,374 (GRCm39)	T2716S	probably benign	Het
Espl1	A	G	15: 102,212,382 (GRCm39)		probably benign	Het
Fcsk	T	A	8: 111,609,957 (GRCm39)	Q1019L	probably damaging	Het
Hnrnpul1	T	A	7: 25,444,657 (GRCm39)	Y217F	possibly damaging	Het
Kmt2a	A	T	9: 44,758,831 (GRCm39)	M1039K	probably damaging	Het
Large1	T	C	8: 73,585,961 (GRCm39)	N382D	probably damaging	Het
Madd	A	G	2: 90,977,230 (GRCm39)	V1402A	probably damaging	Het
Mlh3	C	T	12: 85,313,193 (GRCm39)	V998M	probably benign	Het
Myo1c	A	G	11: 75,548,616 (GRCm39)	Y71C	probably damaging	Het
Myt1l	G	A	12: 29,861,634 (GRCm39)	D139N	unknown	Het
Nes	C	A	3: 87,885,876 (GRCm39)	H1378Q	probably benign	Het
Or4c12	T	C	2: 89,773,736 (GRCm39)	H241R	probably damaging	Het
Otud6b	T	C	4: 14,815,661 (GRCm39)	E243G	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Pcm1	G	T	8: 41,739,088 (GRCm39)	R912L	probably damaging	Het
Piezo2	A	G	18: 63,155,497 (GRCm39)	I2449T	possibly damaging	Het
Slc12a5	G	A	2: 164,818,453 (GRCm39)	M217I	probably damaging	Het
Sorl1	C	A	9: 41,895,802 (GRCm39)	W1784C	probably damaging	Het
Strada	A	C	11: 106,061,790 (GRCm39)	Y154D	probably damaging	Het
Syt6	A	G	3: 103,532,887 (GRCm39)	T424A	probably damaging	Het
Tbx1	C	T	16: 18,402,243 (GRCm39)	A245T	possibly damaging	Het
Tmem143	T	C	7: 45,556,478 (GRCm39)	L161P	probably damaging	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
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
R6620:Spatc1l	UTSW	10	76,405,756 (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'- ACTACACTCGCGGATTGCAGAC -3'
(R):5'- TCAGACTGGGAGGCAATACCTAAGG -3'

Sequencing Primer
(F):5'- TTGCAGACAGGAAGCTGTCC -3'
(R):5'- GCTAAATATCAAGGATGAGCATCTCC -3'

Posted On

2013-07-11