Mutagenetix > Incidental Mutation

Incidental Mutation 'R4179:Spaca7'

501795

Institutional Source

Beutler Lab

Gene Symbol

Spaca7

Ensembl Gene

ENSMUSG00000010435

Gene Name

sperm acrosome associated 7

Synonyms

1700094C09Rik

MMRRC Submission

041015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12623038-12650744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12636435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 87 (N87I)

Ref Sequence

ENSEMBL: ENSMUSP00000147552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010579] [ENSMUST00000209428] [ENSMUST00000210276] [ENSMUST00000210424] [ENSMUST00000211182]

AlphaFold

Q9D2S4

Predicted Effect

probably damaging
Transcript: ENSMUST00000010579
AA Change: N87I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010579
Gene: ENSMUSG00000010435
AA Change: N87I

Domain	Start	End	E-Value	Type
Pfam:SPACA7	19	130	2.2e-47	PFAM
low complexity region	139	150	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209428
AA Change: N87I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210276
AA Change: N87I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000210424

Predicted Effect

probably benign
Transcript: ENSMUST00000211182

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,128 (GRCm39)	M506V	probably benign	Het
Ano1	A	T	7: 144,204,242 (GRCm39)	M290K	probably damaging	Het
Arrdc2	A	T	8: 71,289,821 (GRCm39)	L34Q	probably damaging	Het
Cdadc1	G	T	14: 59,829,935 (GRCm39)	T77N	probably benign	Het
Cmtr2	C	G	8: 110,947,669 (GRCm39)		probably null	Het
Cnot2	A	T	10: 116,334,048 (GRCm39)	V374E	possibly damaging	Het
Crnn	T	C	3: 93,054,120 (GRCm39)	M1T	probably null	Het
Ctsb	A	G	14: 63,370,901 (GRCm39)	N38D	probably benign	Het
Dock10	A	C	1: 80,488,134 (GRCm39)	S2010A	probably benign	Het
Dqx1	A	G	6: 83,036,460 (GRCm39)	T155A	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Eci1	T	C	17: 24,655,251 (GRCm39)	W119R	probably damaging	Het
Foxo1	C	A	3: 52,252,840 (GRCm39)	D334E	probably benign	Het
Gck	T	C	11: 5,860,295 (GRCm39)	T116A	probably benign	Het
Gcn1	T	C	5: 115,726,109 (GRCm39)	V588A	probably benign	Het
Gm7168	A	G	17: 14,169,265 (GRCm39)	I211V	probably benign	Het
Idh3g	A	T	X: 72,825,610 (GRCm39)		probably null	Het
Jag1	A	G	2: 136,943,578 (GRCm39)	F206S	probably damaging	Het
Loxl3	G	A	6: 83,014,565 (GRCm39)	V158I	probably benign	Het
Ly6g	A	G	15: 75,027,567 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,685 (GRCm39)	F532L	probably damaging	Het
Naip1	T	A	13: 100,562,684 (GRCm39)	N827I	probably damaging	Het
Nlrp9c	G	A	7: 26,084,086 (GRCm39)	H498Y	possibly damaging	Het
Or10d1b	A	G	9: 39,613,387 (GRCm39)	I226T	probably benign	Het
Pak2	C	G	16: 31,871,005 (GRCm39)	G59A	probably benign	Het
Pcdha2	T	A	18: 37,074,529 (GRCm39)	L720Q	probably damaging	Het
Pcdhb9	T	A	18: 37,534,168 (GRCm39)	M54K	probably benign	Het
Pde2a	A	G	7: 101,130,590 (GRCm39)	*71W	probably null	Het
Pkd2l1	T	C	19: 44,180,620 (GRCm39)	N32D	probably benign	Het
Pkhd1l1	A	C	15: 44,387,045 (GRCm39)	Y1306S	probably benign	Het
Plec	T	C	15: 76,064,415 (GRCm39)	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Prkd1	C	A	12: 50,413,231 (GRCm39)	G647C	probably damaging	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Qser1	A	G	2: 104,606,729 (GRCm39)	I1510T	probably benign	Het
Ranbp3l	T	C	15: 9,057,279 (GRCm39)	I314T	possibly damaging	Het
Rgs9	C	A	11: 109,172,274 (GRCm39)		probably null	Het
Riok1	T	C	13: 38,232,931 (GRCm39)	F216L	probably damaging	Het
Rrm1	T	A	7: 102,106,405 (GRCm39)	I308N	probably damaging	Het
Serpina1f	A	T	12: 103,658,179 (GRCm39)	M242K	probably benign	Het
Smox	G	A	2: 131,366,770 (GRCm39)	M576I	possibly damaging	Het
Spink5	A	T	18: 44,120,934 (GRCm39)	Q296L	probably benign	Het
Sspo	T	C	6: 48,475,329 (GRCm39)		probably null	Het
Sult2b1	T	A	7: 45,384,735 (GRCm39)	I114F	probably damaging	Het
Tex12	T	C	9: 50,470,587 (GRCm39)		probably null	Het
Tonsl	A	G	15: 76,508,675 (GRCm39)	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsen54	T	C	11: 115,711,678 (GRCm39)	V365A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp47	T	C	7: 111,687,091 (GRCm39)	L683P	probably damaging	Het
Wdr18	T	C	10: 79,800,875 (GRCm39)	L146P	probably damaging	Het
Zfp709	A	G	8: 72,643,750 (GRCm39)	Y392C	probably damaging	Het
Zranb3	A	T	1: 127,888,601 (GRCm39)	I828N	possibly damaging	Het

Other mutations in Spaca7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Spaca7	APN	8	12,630,941 (GRCm39)	splice site	probably benign
IGL02385:Spaca7	APN	8	12,636,498 (GRCm39)	missense	possibly damaging	0.88
R1211:Spaca7	UTSW	8	12,623,139 (GRCm39)	missense	probably damaging	0.99
R1597:Spaca7	UTSW	8	12,630,991 (GRCm39)	nonsense	probably null
R1653:Spaca7	UTSW	8	12,636,501 (GRCm39)	missense	possibly damaging	0.92
R2148:Spaca7	UTSW	8	12,636,447 (GRCm39)	missense	probably damaging	0.98
R2308:Spaca7	UTSW	8	12,648,959 (GRCm39)	missense	probably benign	0.01
R5208:Spaca7	UTSW	8	12,636,456 (GRCm39)	missense	probably damaging	0.98
R5720:Spaca7	UTSW	8	12,649,004 (GRCm39)	missense	possibly damaging	0.92
R7352:Spaca7	UTSW	8	12,635,742 (GRCm39)	missense	probably benign
R7838:Spaca7	UTSW	8	12,635,696 (GRCm39)	missense	probably damaging	0.97
R8375:Spaca7	UTSW	8	12,648,998 (GRCm39)	missense	probably benign	0.25
R8717:Spaca7	UTSW	8	12,636,480 (GRCm39)	missense	probably damaging	1.00
Z1176:Spaca7	UTSW	8	12,630,949 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AACCACTGGACTCAAAGTTGC -3'
(R):5'- AAGTGTATCTGATGCTGGTAGC -3'

Sequencing Primer
(F):5'- GGACTCAAAGTTGCTTGATATTGTC -3'
(R):5'- AGCTCTAAGTGTATCCGATGC -3'

Posted On

2017-12-01