Mutagenetix > Incidental Mutation

Incidental Mutation 'R6902:Spata1'

538570

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

4921536I21Rik, SP-2

MMRRC Submission

045032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146162951-146205508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146181078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 293 (N293K)

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000195949] [ENSMUST00000197980]

AlphaFold

Q9D5R4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029839
AA Change: N293K

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: N293K

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:SPATA1_C	279	428	1.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195949

SMART Domains

Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188

Domain	Start	End	E-Value	Type
Pfam:SPATA1_C	11	137	1e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197980
AA Change: N293K

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: N293K

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
SCOP:d1eq1a_	267	365	8e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,624,680 (GRCm39)		probably benign	Het
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,837,434 (GRCm39)	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,429,381 (GRCm39)	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419 (GRCm39)	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420 (GRCm39)	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,804,733 (GRCm39)	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,769,579 (GRCm39)	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Cog2	A	G	8: 125,273,430 (GRCm39)	K590E	probably damaging	Het
Coq9	G	A	8: 95,577,180 (GRCm39)	E182K	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Focad	C	T	4: 88,148,713 (GRCm39)	R477C	unknown	Het
Gja10	G	T	4: 32,601,905 (GRCm39)	H160N	probably damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Herc2	A	G	7: 55,785,234 (GRCm39)	T1495A	probably benign	Het
Hivep3	T	A	4: 119,953,192 (GRCm39)	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Igf1r	T	A	7: 67,653,911 (GRCm39)	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Krt79	T	C	15: 101,840,314 (GRCm39)	N294S	probably benign	Het
Lama2	T	G	10: 26,857,625 (GRCm39)	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,159,238 (GRCm39)	C386G	probably benign	Het
Lrp2	T	C	2: 69,289,847 (GRCm39)	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Mmp2	G	A	8: 93,563,545 (GRCm39)	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,293,447 (GRCm39)	I35F	probably benign	Het
Myo5b	A	T	18: 74,809,756 (GRCm39)	I613F	possibly damaging	Het
Nicol1	G	A	5: 34,140,923 (GRCm39)		probably benign	Het
Or14c43	T	A	7: 86,114,995 (GRCm39)	C125*	probably null	Het
Or51f1e	A	T	7: 102,747,562 (GRCm39)	I205F	probably benign	Het
Or7d11	A	T	9: 19,966,670 (GRCm39)	L30M	possibly damaging	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Papolb	T	A	5: 142,513,906 (GRCm39)	H579L	probably benign	Het
Pcf11	C	A	7: 92,307,507 (GRCm39)	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,289,829 (GRCm39)	S524P	possibly damaging	Het
Pole3	T	C	4: 62,442,300 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,645 (GRCm39)	V365I	probably benign	Het
Shank1	T	A	7: 44,006,239 (GRCm39)	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,665 (GRCm39)	I421V	possibly damaging	Het
Slc2a6	C	T	2: 26,913,172 (GRCm39)	V374M	probably benign	Het
Stk40	T	A	4: 126,031,605 (GRCm39)	D366E	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Tomm70a	T	C	16: 56,958,444 (GRCm39)	S266P	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Vipr2	A	T	12: 116,102,819 (GRCm39)	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,487,673 (GRCm39)		probably null	Het
Zfp961	A	G	8: 72,722,522 (GRCm39)	K345R	probably damaging	Het

Other mutations in Spata1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Spata1	APN	3	146,181,997 (GRCm39)	missense	possibly damaging	0.94
IGL01306:Spata1	APN	3	146,193,154 (GRCm39)	nonsense	probably null
IGL01537:Spata1	APN	3	146,195,558 (GRCm39)	splice site	probably benign
IGL02363:Spata1	APN	3	146,193,119 (GRCm39)	missense	possibly damaging	0.96
IGL02873:Spata1	APN	3	146,193,122 (GRCm39)	missense	possibly damaging	0.86
IGL02898:Spata1	APN	3	146,181,094 (GRCm39)	missense	possibly damaging	0.71
IGL03071:Spata1	APN	3	146,181,089 (GRCm39)	missense	possibly damaging	0.93
IGL03204:Spata1	APN	3	146,194,434 (GRCm39)	missense	probably benign	0.18
ANU23:Spata1	UTSW	3	146,193,154 (GRCm39)	nonsense	probably null
H8930:Spata1	UTSW	3	146,193,026 (GRCm39)	nonsense	probably null
R0414:Spata1	UTSW	3	146,181,943 (GRCm39)	splice site	probably null
R1109:Spata1	UTSW	3	146,181,053 (GRCm39)	missense	possibly damaging	0.51
R1742:Spata1	UTSW	3	146,175,378 (GRCm39)	critical splice donor site	probably null
R1816:Spata1	UTSW	3	146,186,962 (GRCm39)	missense	probably damaging	0.98
R2006:Spata1	UTSW	3	146,199,438 (GRCm39)	missense	probably benign	0.18
R2851:Spata1	UTSW	3	146,193,295 (GRCm39)	missense	possibly damaging	0.96
R2852:Spata1	UTSW	3	146,193,295 (GRCm39)	missense	possibly damaging	0.96
R3416:Spata1	UTSW	3	146,193,263 (GRCm39)	splice site	probably benign
R3911:Spata1	UTSW	3	146,181,079 (GRCm39)	missense	probably damaging	0.99
R4856:Spata1	UTSW	3	146,175,529 (GRCm39)	missense	probably damaging	0.99
R4859:Spata1	UTSW	3	146,175,529 (GRCm39)	missense	probably damaging	0.99
R4886:Spata1	UTSW	3	146,175,529 (GRCm39)	missense	probably damaging	0.99
R7459:Spata1	UTSW	3	146,181,977 (GRCm39)	missense	possibly damaging	0.86
R7532:Spata1	UTSW	3	146,173,946 (GRCm39)	missense	possibly damaging	0.86
R7997:Spata1	UTSW	3	146,182,035 (GRCm39)	missense	probably benign	0.44
R8194:Spata1	UTSW	3	146,195,614 (GRCm39)	missense	possibly damaging	0.72
R8673:Spata1	UTSW	3	146,181,079 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACGGTCTGTAGGAAACAAGTTG -3'
(R):5'- CTCCATGGTGGTAAGAGCAG -3'

Sequencing Primer
(F):5'- TCTGTAGGAAACAAGTTGAATGACTG -3'
(R):5'- GAGCAGAAAGAAAAACATGGTTTG -3'

Posted On

2018-11-06