Mutagenetix > Incidental Mutation

Incidental Mutation 'R1211:Spaca7'

100691

Institutional Source

Beutler Lab

Gene Symbol

Spaca7

Ensembl Gene

ENSMUSG00000010435

Gene Name

sperm acrosome associated 7

Synonyms

1700094C09Rik

MMRRC Submission

039280-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12623038-12650744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12623139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 12 (S12P)

Ref Sequence

ENSEMBL: ENSMUSP00000147552 (fasta)

Gene Model

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

AlphaFold

Q9D2S4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010579
AA Change: S12P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000010579
Gene: ENSMUSG00000010435
AA Change: S12P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180858

Predicted Effect

probably damaging
Transcript: ENSMUST00000209428
AA Change: S12P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210276
AA Change: S12P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210424
AA Change: S12P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211182
AA Change: S12P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.2%
10x: 95.3%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	T	C	5: 50,164,218 (GRCm39)	M254V	possibly damaging	Het
Arrdc3	A	G	13: 81,038,817 (GRCm39)	T40A	possibly damaging	Het
Cntnap1	C	A	11: 101,075,536 (GRCm39)	Q905K	probably damaging	Het
Dclk1	A	G	3: 55,288,244 (GRCm39)	I256V	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Erlec1	A	G	11: 30,898,298 (GRCm39)		probably null	Het
Gm10160	A	T	7: 81,505,497 (GRCm39)	Y16N	probably benign	Het
Gm10608	C	CNNNNNNNN	9: 118,989,780 (GRCm39)		probably null	Het
H2-T13	A	T	17: 36,391,965 (GRCm39)	V207D	probably damaging	Het
Kcna4	AGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGG	2: 107,125,660 (GRCm39)		probably benign	Het
Mycbp2	A	T	14: 103,357,999 (GRCm39)	D4488E	probably benign	Het
Ndufaf1	A	G	2: 119,486,156 (GRCm39)	S319P	probably damaging	Het
Or5h25	A	C	16: 58,930,523 (GRCm39)	V150G	possibly damaging	Het
Smad4	T	C	18: 73,782,982 (GRCm39)		probably null	Het
Stx11	A	G	10: 12,817,155 (GRCm39)	S190P	probably 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
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
R4179:Spaca7	UTSW	8	12,636,435 (GRCm39)	missense	probably damaging	1.00
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'- GCAGGACCCCAGTTCACTTCTTAAC -3'
(R):5'- ATAAAGCCGCTCCCTGGCATTC -3'

Sequencing Primer
(F):5'- CCATGTTCTCACAGGGTTAACATAC -3'
(R):5'- TCCTGTGTGAGAGGCATTCAAAG -3'

Posted On

2014-01-15