Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Spaca6'

238455

Institutional Source

Beutler Lab

Gene Symbol

Spaca6

Ensembl Gene

ENSMUSG00000080316

Gene Name

sperm acrosome associated 6

Synonyms

B230206P06Rik, 4930546H06Rik, Ncrna00085

MMRRC Submission

040199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2197 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18047420-18063271 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 18056416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000139969] [ENSMUST00000150302] [ENSMUST00000150302] [ENSMUST00000172097] [ENSMUST00000172097] [ENSMUST00000228490] [ENSMUST00000226899]

AlphaFold

E9Q8Q8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000012759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000052338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137228

Predicted Effect

probably benign
Transcript: ENSMUST00000139969

SMART Domains

Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:IG	151	186	1e-17	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000150302

Predicted Effect

probably null
Transcript: ENSMUST00000150302

Predicted Effect

probably benign
Transcript: ENSMUST00000154301

SMART Domains

Protein: ENSMUSP00000117377
Gene: ENSMUSG00000080316

Domain	Start	End	E-Value	Type
Blast:IG	27	78	2e-32	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000172097

SMART Domains

Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
IG	171	260	2.08e-1	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172097

SMART Domains

Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
IG	171	260	2.08e-1	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178408

Predicted Effect

probably benign
Transcript: ENSMUST00000228490

Predicted Effect

probably benign
Transcript: ENSMUST00000226899

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgene insertion that inactivates this gene exhibit impaired fertilization and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	T	11: 102,660,750 (GRCm39)	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C1s2	A	G	6: 124,609,069 (GRCm39)	S163P	probably damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,718,745 (GRCm39)	F624I	probably benign	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Gjb5	A	T	4: 127,250,063 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4c52	G	A	2: 89,845,768 (GRCm39)	G165S	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,556,058 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,719,353 (GRCm39)	V189A	probably benign	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	probably damaging	Het

Other mutations in Spaca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Spaca6	APN	17	18,051,429 (GRCm39)	missense	probably benign	0.41
IGL02630:Spaca6	APN	17	18,051,351 (GRCm39)	missense	probably damaging	1.00
IGL03010:Spaca6	APN	17	18,058,667 (GRCm39)	missense	probably benign	0.01
IGL03352:Spaca6	APN	17	18,058,401 (GRCm39)	missense	probably damaging	1.00
R0021:Spaca6	UTSW	17	18,058,498 (GRCm39)	nonsense	probably null
R0964:Spaca6	UTSW	17	18,058,653 (GRCm39)	missense	possibly damaging	0.46
R1941:Spaca6	UTSW	17	18,058,692 (GRCm39)	missense	probably damaging	0.99
R1941:Spaca6	UTSW	17	18,058,664 (GRCm39)	missense	probably benign	0.05
R2235:Spaca6	UTSW	17	18,058,507 (GRCm39)	critical splice donor site	probably null
R4602:Spaca6	UTSW	17	18,051,387 (GRCm39)	missense	probably damaging	0.99
R4645:Spaca6	UTSW	17	18,056,307 (GRCm39)	intron	probably benign
R4672:Spaca6	UTSW	17	18,057,005 (GRCm39)	nonsense	probably null
R5044:Spaca6	UTSW	17	18,051,458 (GRCm39)	missense	probably benign	0.00
R5212:Spaca6	UTSW	17	18,058,656 (GRCm39)	missense	probably benign	0.01
R5222:Spaca6	UTSW	17	18,058,367 (GRCm39)	missense	probably benign	0.02
R5528:Spaca6	UTSW	17	18,051,344 (GRCm39)	missense	probably benign
R5854:Spaca6	UTSW	17	18,051,509 (GRCm39)	nonsense	probably null
R6029:Spaca6	UTSW	17	18,051,458 (GRCm39)	missense	probably benign	0.00
R7041:Spaca6	UTSW	17	18,056,358 (GRCm39)	missense	probably benign	0.14
R7268:Spaca6	UTSW	17	18,052,369 (GRCm39)	missense	probably benign	0.09
R8281:Spaca6	UTSW	17	18,052,321 (GRCm39)	missense	possibly damaging	0.78
R8840:Spaca6	UTSW	17	18,051,365 (GRCm39)	missense	possibly damaging	0.59
R8926:Spaca6	UTSW	17	18,058,790 (GRCm39)	critical splice donor site	probably null
R8965:Spaca6	UTSW	17	18,058,718 (GRCm39)	missense	probably damaging	0.98
R9404:Spaca6	UTSW	17	18,057,800 (GRCm39)	missense	probably damaging	1.00
R9651:Spaca6	UTSW	17	18,057,829 (GRCm39)	missense	probably benign	0.14
R9713:Spaca6	UTSW	17	18,058,498 (GRCm39)	nonsense	probably null
Z1177:Spaca6	UTSW	17	18,051,314 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- AGTTCTTTCAGGAGGCAGAAAG -3'
(R):5'- TTTGAGTGCAGAGCCAGAAAC -3'

Sequencing Primer
(F):5'- CACTTGGGGGAAGTTTGCAACC -3'
(R):5'- GTGCAGAGCCAGAAACAGAACTC -3'

Posted On

2014-10-02