Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Spaca6'

711441

Institutional Source

Beutler Lab

Gene Symbol

Spaca6

Ensembl Gene

ENSMUSG00000080316

Gene Name

sperm acrosome associated 6

Synonyms

B230206P06Rik, 4930546H06Rik, Ncrna00085

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18047420-18063271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18057800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 155 (C155R)

Ref Sequence

ENSEMBL: ENSMUSP00000128732 (fasta)

Gene Model

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

AlphaFold

E9Q8Q8

Predicted Effect

probably damaging
Transcript: ENSMUST00000139969
AA Change: C135R

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

SMART Domains

Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
AA Change: C135R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150302
AA Change: C55R

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

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 damaging
Transcript: ENSMUST00000172097
AA Change: C155R

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

SMART Domains

Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: C155R

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 damaging
Transcript: ENSMUST00000226899
AA Change: C64R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000228490

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,615,509 (GRCm39)	K314R	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,005,064 (GRCm39)	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,373,557 (GRCm39)	S2P	probably damaging	Het
Cdh11	A	T	8: 103,406,254 (GRCm39)	L73Q	probably damaging	Het
Cdk15	A	G	1: 59,328,914 (GRCm39)	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,194,178 (GRCm39)	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,258 (GRCm39)	T310A	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ewsr1	A	G	11: 5,022,940 (GRCm39)	M388T	unknown	Het
Fat2	A	G	11: 55,144,348 (GRCm39)		probably null	Het
Gm8225	T	A	17: 26,762,034 (GRCm39)	I75N	probably damaging	Het
Gsap	A	G	5: 21,474,919 (GRCm39)	Y526C	probably damaging	Het
Hk1	T	A	10: 62,131,859 (GRCm39)	I203F	possibly damaging	Het
Insl5	T	C	4: 102,875,535 (GRCm39)	R72G	probably benign	Het
Iqcb1	T	C	16: 36,671,632 (GRCm39)	V321A	probably damaging	Het
Iqcd	A	C	5: 120,738,601 (GRCm39)	T140P		Het
Kcnt2	T	A	1: 140,353,107 (GRCm39)	I272K	probably damaging	Het
Klhl25	A	C	7: 75,515,153 (GRCm39)	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	C	3: 86,205,224 (GRCm39)	V356A	probably damaging	Het
Mast4	A	G	13: 102,887,933 (GRCm39)	Y1159H	probably damaging	Het
Mavs	T	A	2: 131,083,818 (GRCm39)	L105Q	probably damaging	Het
Megf6	T	A	4: 154,348,225 (GRCm39)	C902S		Het
Mmp17	A	G	5: 129,682,741 (GRCm39)	D460G	possibly damaging	Het
Myh2	G	T	11: 67,070,454 (GRCm39)	A466S	probably damaging	Het
Neb	T	C	2: 52,147,788 (GRCm39)	N2744D	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or13a26	T	A	7: 140,284,722 (GRCm39)	L186H	probably damaging	Het
Or2a12	T	C	6: 42,904,750 (GRCm39)	V195A	probably benign	Het
Or2aj4	C	T	16: 19,384,731 (GRCm39)	V301M	probably benign	Het
Or4a27	T	A	2: 88,559,551 (GRCm39)	M131L	probably benign	Het
Or6d13	T	G	6: 116,517,708 (GRCm39)	I98S	probably damaging	Het
Or8g55	A	T	9: 39,784,708 (GRCm39)	I46F	possibly damaging	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565 (GRCm39)	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,803,067 (GRCm39)	T304A	probably benign	Het
Pcsk1	T	G	13: 75,280,342 (GRCm39)	S722R	probably benign	Het
Pcsk9	C	A	4: 106,311,723 (GRCm39)	R218L	probably damaging	Het
Pds5a	T	A	5: 65,776,307 (GRCm39)	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,703,270 (GRCm39)	V889L	probably benign	Het
Plekhh2	A	T	17: 84,878,468 (GRCm39)		probably null	Het
Pnn	A	G	12: 59,118,758 (GRCm39)	E447G	probably damaging	Het
Ppp2r3d	A	G	9: 101,025,840 (GRCm39)	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,152,753 (GRCm39)	H298R	probably benign	Het
Ptpn23	T	C	9: 110,216,025 (GRCm39)	N1277S		Het
Pus10	T	A	11: 23,661,202 (GRCm39)	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,400,542 (GRCm39)	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,382,615 (GRCm39)	C23*	probably null	Het
Runx1	T	C	16: 92,485,915 (GRCm39)	N140D	probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,357,040 (GRCm39)	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,066,771 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,335,488 (GRCm39)	H350R	possibly damaging	Het
Spire2	C	T	8: 124,090,077 (GRCm39)	R580*	probably null	Het
Srgap3	A	T	6: 112,706,616 (GRCm39)	M851K	probably benign	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tlcd4	T	C	3: 121,028,731 (GRCm39)	N52S	probably benign	Het
Trak2	T	C	1: 58,960,296 (GRCm39)	T236A	possibly damaging	Het
Trrap	T	C	5: 144,752,225 (GRCm39)	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,584,500 (GRCm39)	S22203T	probably damaging	Het
Tut7	A	T	13: 59,947,701 (GRCm39)	N873K	probably benign	Het
Ube3a	A	G	7: 58,936,763 (GRCm39)	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912 (GRCm39)	I164V	probably benign	Het
Vcpip1	T	C	1: 9,817,856 (GRCm39)	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626 (GRCm39)	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,451,247 (GRCm39)	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,565 (GRCm39)	T2799S	probably damaging	Het
Vps8	T	C	16: 21,426,927 (GRCm39)	S1337P	probably benign	Het
Zfp235	A	T	7: 23,839,862 (GRCm39)	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,663,366 (GRCm39)	K442E	probably damaging	Het
Zfp418	A	T	7: 7,185,104 (GRCm39)	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,525,185 (GRCm39)	G68S	probably benign	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
R2197:Spaca6	UTSW	17	18,056,416 (GRCm39)	critical splice donor site	probably null
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
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'- CACAAGCCAGAAGGTTAGCCAG -3'
(R):5'- GACTCTGGCAACTCGAAAGC -3'

Sequencing Primer
(F):5'- AAGGTTAGCCAGGGCCTTACTG -3'
(R):5'- GCAACTCGAAAGCCACGATACAAG -3'

Posted On

2022-05-16