Mutagenetix > Incidental Mutation

Incidental Mutation 'R8703:Spata21'

669142

Institutional Source

Beutler Lab

Gene Symbol

Spata21

Ensembl Gene

ENSMUSG00000045004

Gene Name

spermatogenesis associated 21

Synonyms

MMRRC Submission

068557-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140815644-140840071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140832218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 460 (I460V)

Ref Sequence

ENSEMBL: ENSMUSP00000053080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051907]

AlphaFold

Q8BHW6

Predicted Effect

probably benign
Transcript: ENSMUST00000051907
AA Change: I460V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000053080
Gene: ENSMUSG00000045004
AA Change: I460V

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	245	251	N/A	INTRINSIC
low complexity region	319	335	N/A	INTRINSIC
SCOP:d1mr8a_	428	494	7e-13	SMART
PDB:2RRT\|A	432	494	2e-7	PDB
low complexity region	524	540	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,676,792 (GRCm39)	T2013I	probably damaging	Het
Ak9	A	T	10: 41,201,120 (GRCm39)	N137Y		Het
Apol10b	T	A	15: 77,472,897 (GRCm39)	E52D	probably damaging	Het
Calr3	A	T	8: 73,192,291 (GRCm39)	Y128N	probably damaging	Het
Dnah14	T	A	1: 181,493,576 (GRCm39)	L1669*	probably null	Het
Dppa3	A	T	6: 122,605,737 (GRCm39)	D97V	probably damaging	Het
Dync1li1	C	A	9: 114,552,329 (GRCm39)	P490T	probably damaging	Het
Eya4	A	G	10: 23,039,340 (GRCm39)	S85P	probably benign	Het
Fpr-rs4	T	A	17: 18,242,332 (GRCm39)	I113N	probably damaging	Het
Fryl	T	C	5: 73,247,997 (GRCm39)	D1040G	probably damaging	Het
Fsip2	A	T	2: 82,821,871 (GRCm39)	D5868V	probably damaging	Het
Gpr75	A	C	11: 30,841,890 (GRCm39)	Q265P	probably damaging	Het
Iqcm	G	T	8: 76,615,271 (GRCm39)	G451C	probably damaging	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Mcm9	G	A	10: 53,506,073 (GRCm39)	P67L	probably damaging	Het
Naalad2	A	C	9: 18,290,008 (GRCm39)	Y207D	probably damaging	Het
Nrap	C	T	19: 56,323,703 (GRCm39)	D1325N	probably damaging	Het
Nup133	A	G	8: 124,643,021 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4b1b	T	A	2: 90,126,837 (GRCm39)	I123F	probably damaging	Het
Or8k28	C	A	2: 86,286,244 (GRCm39)	V124L	possibly damaging	Het
Or9i14	G	T	19: 13,792,105 (GRCm39)	P283H	probably damaging	Het
Per2	T	A	1: 91,351,767 (GRCm39)	N913I	possibly damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Reps1	C	T	10: 17,968,990 (GRCm39)	R183C	probably damaging	Het
Rims1	A	T	1: 22,496,137 (GRCm39)	C134S		Het
Rpl10-ps3	A	G	9: 50,256,184 (GRCm39)	S20P	probably benign	Het
Sash1	C	A	10: 8,605,595 (GRCm39)	G932C	probably damaging	Het
Sema4d	T	C	13: 51,854,959 (GRCm39)	Q46R		Het
Sh3d19	A	G	3: 86,014,568 (GRCm39)	E453G	probably damaging	Het
Sirt6	A	G	10: 81,461,548 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,867,657 (GRCm39)	F129L	probably damaging	Het
Skint5	T	A	4: 113,733,207 (GRCm39)	I399F	unknown	Het
Slc22a7	T	C	17: 46,744,951 (GRCm39)	D365G	probably damaging	Het
Slc6a12	A	G	6: 121,324,447 (GRCm39)	M38V	probably benign	Het
Slc9b2	C	A	3: 135,031,924 (GRCm39)	Y261*	probably null	Het
Tes	C	G	6: 17,099,788 (GRCm39)	P261R	probably damaging	Het
Tex15	T	C	8: 34,062,724 (GRCm39)	L718P	probably benign	Het
Tmem135	G	A	7: 88,808,170 (GRCm39)	A202V	probably benign	Het
Usp29	T	C	7: 6,964,321 (GRCm39)	F55L	probably benign	Het
Usp9y	A	G	Y: 1,356,317 (GRCm39)	L1128P	probably damaging	Het
Zdhhc5	T	C	2: 84,520,596 (GRCm39)	E527G	probably benign	Het
Zfand4	A	G	6: 116,250,604 (GRCm39)	I11M	probably damaging	Het
Zfp110	T	A	7: 12,582,888 (GRCm39)	I512K	probably benign	Het
Zfp638	T	A	6: 83,954,143 (GRCm39)	F1416Y	probably damaging	Het

Other mutations in Spata21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Spata21	APN	4	140,838,675 (GRCm39)	splice site	probably null
IGL02679:Spata21	APN	4	140,838,576 (GRCm39)	unclassified	probably benign
R1772:Spata21	UTSW	4	140,838,607 (GRCm39)	missense	possibly damaging	0.79
R1894:Spata21	UTSW	4	140,838,692 (GRCm39)	missense	possibly damaging	0.53
R1950:Spata21	UTSW	4	140,838,716 (GRCm39)	missense	probably damaging	0.99
R2015:Spata21	UTSW	4	140,834,640 (GRCm39)	nonsense	probably null
R2093:Spata21	UTSW	4	140,824,277 (GRCm39)	missense	probably benign	0.04
R2911:Spata21	UTSW	4	140,830,393 (GRCm39)	missense	possibly damaging	0.46
R4809:Spata21	UTSW	4	140,824,431 (GRCm39)	critical splice donor site	probably null
R4897:Spata21	UTSW	4	140,832,261 (GRCm39)	missense	probably damaging	0.99
R4907:Spata21	UTSW	4	140,824,432 (GRCm39)	critical splice donor site	probably null
R4921:Spata21	UTSW	4	140,839,402 (GRCm39)	missense	probably damaging	1.00
R5269:Spata21	UTSW	4	140,830,332 (GRCm39)	missense	probably damaging	1.00
R5380:Spata21	UTSW	4	140,834,496 (GRCm39)	missense	probably damaging	1.00
R5602:Spata21	UTSW	4	140,824,210 (GRCm39)	missense	probably benign
R6982:Spata21	UTSW	4	140,824,184 (GRCm39)	missense	possibly damaging	0.71
R7503:Spata21	UTSW	4	140,822,614 (GRCm39)	missense	probably benign	0.05
R7809:Spata21	UTSW	4	140,831,354 (GRCm39)	missense	probably null	0.83
R8072:Spata21	UTSW	4	140,839,317 (GRCm39)	nonsense	probably null
R8695:Spata21	UTSW	4	140,838,755 (GRCm39)	critical splice donor site	probably null
R8940:Spata21	UTSW	4	140,832,216 (GRCm39)	missense	probably damaging	1.00
R9462:Spata21	UTSW	4	140,831,316 (GRCm39)	missense	probably damaging	1.00
R9601:Spata21	UTSW	4	140,822,467 (GRCm39)	missense	possibly damaging	0.93
Z1177:Spata21	UTSW	4	140,825,313 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCTTAACAGGCACACGC -3'
(R):5'- TCAGGGACCATTAGCTTCCAG -3'

Sequencing Primer
(F):5'- CTACGTGCCACAAGATATTTGCAGG -3'
(R):5'- TTAGCTTCCAGAATCAGAGCCTG -3'

Posted On

2021-04-30