Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Spaca9'

223749

Institutional Source

Beutler Lab

Gene Symbol

Spaca9

Ensembl Gene

ENSMUSG00000026809

Gene Name

sperm acrosome associated 9

Synonyms

Mast, 1700026L06Rik

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28692080-28699727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28696001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 17 (L17P)

Ref Sequence

ENSEMBL: ENSMUSP00000121846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028155] [ENSMUST00000074156] [ENSMUST00000102877] [ENSMUST00000113867] [ENSMUST00000113869] [ENSMUST00000113870] [ENSMUST00000124840]

AlphaFold

Q7TPM5

Predicted Effect

probably benign
Transcript: ENSMUST00000028155

SMART Domains

Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	715	2.2e-281	PFAM
SCOP:d1eq1a_	723	886	4e-11	SMART
low complexity region	974	990	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1099	1117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074156

SMART Domains

Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807

Domain	Start	End	E-Value	Type
Pfam:AAA_33	60	186	6.2e-8	PFAM
Pfam:AAA_18	60	191	2.3e-9	PFAM
Pfam:ADK	62	237	5.5e-16	PFAM
Pfam:ADK	273	452	1.6e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102877
AA Change: L17P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099941
Gene: ENSMUSG00000026809
AA Change: L17P

Domain	Start	End	E-Value	Type
Pfam:DUF4561	1	166	1.5e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113867

SMART Domains

Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	710	7.3e-279	PFAM
SCOP:d1eq1a_	718	881	6e-11	SMART
low complexity region	969	985	N/A	INTRINSIC
low complexity region	1020	1037	N/A	INTRINSIC
low complexity region	1094	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113869

SMART Domains

Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	7	716	6e-279	PFAM
SCOP:d1eq1a_	724	887	4e-11	SMART
low complexity region	975	991	N/A	INTRINSIC
low complexity region	1026	1043	N/A	INTRINSIC
low complexity region	1100	1118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113870

SMART Domains

Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	715	2.2e-281	PFAM
SCOP:d1eq1a_	723	886	4e-11	SMART
low complexity region	974	990	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1099	1117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123794

Predicted Effect

probably damaging
Transcript: ENSMUST00000124840
AA Change: L17P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121846
Gene: ENSMUSG00000026809
AA Change: L17P

Domain	Start	End	E-Value	Type
Pfam:DUF4561	1	167	4.1e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145014

Meta Mutation Damage Score

0.2240

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,968,912 (GRCm38)		noncoding transcript	Het
9530053A07Rik	T	C	7: 28,155,594 (GRCm38)	S1882P	probably benign	Het
Adam17	G	A	12: 21,349,875 (GRCm38)	R177C	probably damaging	Het
Ak7	G	A	12: 105,745,332 (GRCm38)		probably null	Het
Akap9	T	C	5: 3,961,967 (GRCm38)	V890A	probably damaging	Het
Alg6	A	G	4: 99,738,132 (GRCm38)	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,538,549 (GRCm38)	A43S	probably benign	Het
Anxa2	C	A	9: 69,483,817 (GRCm38)	D162E	probably damaging	Het
Arap1	A	G	7: 101,401,518 (GRCm38)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,854,904 (GRCm38)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,723,810 (GRCm38)	T716S	unknown	Het
Atg2a	T	C	19: 6,250,269 (GRCm38)		probably null	Het
Ccdc27	T	C	4: 154,033,313 (GRCm38)	I480V	probably null	Het
Cdipt	T	C	7: 126,976,933 (GRCm38)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 46,830,445 (GRCm38)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm38)	V2152I	probably benign	Het
Chd8	T	A	14: 52,215,241 (GRCm38)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,107,343 (GRCm38)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,446,181 (GRCm38)		probably benign	Het
Col20a1	G	A	2: 181,013,163 (GRCm38)		probably null	Het
Cped1	A	G	6: 22,143,964 (GRCm38)	I570V	probably benign	Het
Cul9	C	G	17: 46,522,175 (GRCm38)	A1326P	probably damaging	Het
Ddx27	A	C	2: 167,033,771 (GRCm38)	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,612,003 (GRCm38)	F131L	probably damaging	Het
Dhx38	G	A	8: 109,556,869 (GRCm38)		probably benign	Het
Dido1	G	T	2: 180,659,585 (GRCm38)	N2175K	unknown	Het
Dmxl1	T	A	18: 49,889,558 (GRCm38)	Y1654*	probably null	Het
Dock7	T	A	4: 98,959,101 (GRCm38)	H1658L	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm38)	I555V	probably benign	Het
Dync2h1	T	A	9: 7,122,772 (GRCm38)	E2061D	probably damaging	Het
Eif2ak2	T	C	17: 78,863,963 (GRCm38)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,250,149 (GRCm38)	D46V	probably benign	Het
Fech	C	T	18: 64,478,727 (GRCm38)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,363 (GRCm38)	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,644 (GRCm38)	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,733,896 (GRCm38)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,417,093 (GRCm38)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,833,894 (GRCm38)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,267,241 (GRCm38)	L201*	probably null	Het
Il1rl2	C	A	1: 40,365,214 (GRCm38)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,725,541 (GRCm38)	R489W	probably damaging	Het
Itga10	G	A	3: 96,652,490 (GRCm38)	G487D	probably damaging	Het
Klk8	A	G	7: 43,799,216 (GRCm38)	N128D	probably benign	Het
Lgr6	G	A	1: 135,075,275 (GRCm38)	T79M	probably damaging	Het
Med6	T	C	12: 81,573,877 (GRCm38)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,541,322 (GRCm38)	L328P	probably damaging	Het
Mttp	A	G	3: 138,118,402 (GRCm38)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,545,968 (GRCm38)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,753,223 (GRCm38)		probably null	Het
Nlgn2	G	T	11: 69,828,441 (GRCm38)	N194K	probably damaging	Het
Olfr1026	A	G	2: 85,923,743 (GRCm38)	I158M	probably benign	Het
Olfr1245	A	T	2: 89,574,961 (GRCm38)	M255K	possibly damaging	Het
Olfr1450	G	A	19: 12,954,332 (GRCm38)	V248I	possibly damaging	Het
Olfr357	G	A	2: 36,997,652 (GRCm38)	V281M	possibly damaging	Het
Olfr894	A	G	9: 38,219,432 (GRCm38)	Y203C	possibly damaging	Het
Pcca	T	A	14: 122,813,222 (GRCm38)	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,284,970 (GRCm38)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,162,312 (GRCm38)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,279,521 (GRCm38)	V501I	probably benign	Het
Prom1	T	A	5: 44,011,253 (GRCm38)		probably benign	Het
Ptprd	A	G	4: 76,133,161 (GRCm38)	V41A	probably damaging	Het
Rab39	C	T	9: 53,686,398 (GRCm38)	G189E	possibly damaging	Het
Ret	T	C	6: 118,180,382 (GRCm38)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,720,057 (GRCm38)		probably null	Het
Rnf213	A	G	11: 119,461,918 (GRCm38)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,095,683 (GRCm38)	N336S	probably damaging	Het
Sag	G	A	1: 87,805,315 (GRCm38)	A2T	probably damaging	Het
Sco2	T	C	15: 89,371,860 (GRCm38)	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,566,944 (GRCm38)	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,987,728 (GRCm38)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,993,412 (GRCm38)	F361Y	probably damaging	Het
Sqor	T	C	2: 122,804,107 (GRCm38)		probably null	Het
Stx18	A	G	5: 38,135,244 (GRCm38)	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,630,769 (GRCm38)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,593,724 (GRCm38)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,166,972 (GRCm38)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,232,385 (GRCm38)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,442,819 (GRCm38)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,418,333 (GRCm38)	S751P	probably damaging	Het
Ttc30a1	A	G	2: 75,980,935 (GRCm38)	V268A	probably benign	Het
Ttn	A	G	2: 76,827,024 (GRCm38)		probably benign	Het
Ugdh	T	C	5: 65,416,925 (GRCm38)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,844,169 (GRCm38)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,541,186 (GRCm38)	C636*	probably null	Het
Vmn2r59	A	C	7: 42,043,779 (GRCm38)	Y466D	probably damaging	Het
Zic5	C	T	14: 122,464,830 (GRCm38)	G163D	unknown	Het

Other mutations in Spaca9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02175:Spaca9	APN	2	28,695,924 (GRCm38)	missense	probably benign	0.00
IGL02641:Spaca9	APN	2	28,695,951 (GRCm38)	nonsense	probably null
R0376:Spaca9	UTSW	2	28,693,660 (GRCm38)	missense	probably benign	0.05
R0452:Spaca9	UTSW	2	28,695,993 (GRCm38)	missense	probably damaging	1.00
R0496:Spaca9	UTSW	2	28,693,010 (GRCm38)	missense	probably damaging	0.98
R4244:Spaca9	UTSW	2	28,692,986 (GRCm38)	missense	probably benign	0.25
R6145:Spaca9	UTSW	2	28,693,781 (GRCm38)	missense	probably damaging	1.00
R6146:Spaca9	UTSW	2	28,693,781 (GRCm38)	missense	probably damaging	1.00
R6148:Spaca9	UTSW	2	28,693,781 (GRCm38)	missense	probably damaging	1.00
R7935:Spaca9	UTSW	2	28,693,622 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTCCACTGTTCATGTTTG -3'
(R):5'- GGACACATTGCTATGGGAGG -3'

Sequencing Primer
(F):5'- GGGAGAACACGCGCACAC -3'
(R):5'- CTATGGGAGGATGCTTCCATC -3'

Posted On

2014-08-25