Mutagenetix > Incidental Mutation

Incidental Mutation 'R6896:Spatc1l'

538342

Institutional Source

Beutler Lab

Gene Symbol

Spatc1l

Ensembl Gene

ENSMUSG00000009115

Gene Name

spermatogenesis and centriole associated 1 like

Synonyms

1700022B01Rik, 1700027D21Rik

MMRRC Submission

044990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76398106-76406035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76405242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 208 (R208H)

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: R208H

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

SMART Domains

Protein: ENSMUSP00000009259
Gene: ENSMUSG00000009115
AA Change: R208H

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

unknown
Transcript: ENSMUST00000105414
AA Change: V187I

SMART Domains

Protein: ENSMUSP00000101054
Gene: ENSMUSG00000009115
AA Change: V187I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,660,298 (GRCm39)	L454P	probably damaging	Het
Acadm	T	C	3: 153,641,957 (GRCm39)	I192V	probably damaging	Het
Acadsb	T	A	7: 131,045,375 (GRCm39)	Y436N	probably benign	Het
Ache	G	A	5: 137,289,996 (GRCm39)	V442M	probably damaging	Het
Adam39	A	T	8: 41,277,975 (GRCm39)	N122I	possibly damaging	Het
Akap6	A	T	12: 52,934,277 (GRCm39)	I590F	probably benign	Het
Akap8	T	C	17: 32,536,305 (GRCm39)	N36S	probably benign	Het
Asap2	T	C	12: 21,315,526 (GRCm39)	S933P	probably damaging	Het
C3	C	T	17: 57,527,864 (GRCm39)		probably null	Het
Cdon	T	A	9: 35,363,402 (GRCm39)	M1K	probably null	Het
Cemip	T	A	7: 83,647,784 (GRCm39)	I99F	probably damaging	Het
Cfap251	A	G	5: 123,416,421 (GRCm39)	T565A	possibly damaging	Het
Cfap58	T	G	19: 47,932,626 (GRCm39)	L130R	probably damaging	Het
Clca3a2	T	C	3: 144,514,462 (GRCm39)	D415G	probably damaging	Het
Coch	A	G	12: 51,649,652 (GRCm39)	D321G	possibly damaging	Het
Dync2i1	C	T	12: 116,193,291 (GRCm39)	G554R	possibly damaging	Het
Efcab11	A	G	12: 99,849,674 (GRCm39)		probably benign	Het
Ermap	G	T	4: 119,044,328 (GRCm39)	S156*	probably null	Het
Fap	G	T	2: 62,334,944 (GRCm39)	Y620*	probably null	Het
Galntl5	T	C	5: 25,394,947 (GRCm39)		probably null	Het
Il21r	C	A	7: 125,226,128 (GRCm39)	H76N	probably damaging	Het
Itpr1	T	G	6: 108,458,355 (GRCm39)	Y2041D	probably damaging	Het
Megf8	T	A	7: 25,029,357 (GRCm39)	N300K	probably benign	Het
Muc2	G	A	7: 141,306,432 (GRCm39)	V285I	possibly damaging	Het
Myh15	A	T	16: 48,933,434 (GRCm39)	Q623L	probably benign	Het
Myh7b	T	C	2: 155,464,488 (GRCm39)		probably null	Het
Naaladl1	T	A	19: 6,159,335 (GRCm39)		probably null	Het
Nlrp9b	T	G	7: 19,757,170 (GRCm39)	F136V	probably damaging	Het
Oprd1	A	T	4: 131,844,612 (GRCm39)	M132K	probably damaging	Het
Or10a3b	T	C	7: 108,444,750 (GRCm39)	T156A	probably benign	Het
Or4s2b	A	G	2: 88,508,340 (GRCm39)	N47S	probably damaging	Het
Or6c70	A	T	10: 129,710,623 (GRCm39)	M1K	probably null	Het
Or9g4	A	G	2: 85,505,277 (GRCm39)	Y73H	probably damaging	Het
Patj	T	A	4: 98,314,287 (GRCm39)	V369D	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,265 (GRCm39)	L77P	probably damaging	Het
Pcf11	T	C	7: 92,298,759 (GRCm39)	D1259G	probably damaging	Het
Pdcl	A	T	2: 37,242,191 (GRCm39)	H186Q	probably damaging	Het
Pdzd9	A	T	7: 120,262,095 (GRCm39)	*77R	probably null	Het
Reln	C	T	5: 22,104,177 (GRCm39)	E3265K	probably benign	Het
Smg8	T	C	11: 86,968,787 (GRCm39)	T990A	possibly damaging	Het
Smok2a	C	T	17: 13,444,758 (GRCm39)	H112Y	probably benign	Het
Taf7	T	C	18: 37,775,733 (GRCm39)	D278G	possibly damaging	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn2r78	C	T	7: 86,571,558 (GRCm39)	T456I	probably benign	Het
Vwf	T	C	6: 125,543,157 (GRCm39)	S148P	probably damaging	Het
Xpot	A	C	10: 121,449,390 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,348,031 (GRCm39)	R2137W	probably damaging	Het
Zfp462	T	A	4: 55,009,544 (GRCm39)	N503K	possibly damaging	Het
Zfp641	T	A	15: 98,191,684 (GRCm39)	M1L	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
R6620:Spatc1l	UTSW	10	76,405,756 (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'- TCTCAGGGGAACATGCTGAGAG -3'
(R):5'- AAGAAGAGTCTGGGGTCTGC -3'

Sequencing Primer
(F):5'- GGTCCAAATACCTCAGCTTTTTAAAG -3'
(R):5'- TCTGCACGGACTTGCCAG -3'

Posted On

2018-11-06