Mutagenetix > Incidental Mutations

Incidental Mutation 'R0904:Eqtn'

83240

Institutional Source

Beutler Lab

Gene Symbol

Eqtn

Ensembl Gene

ENSMUSG00000028575

Gene Name

equatorin, sperm acrosome associated

Synonyms

4930579C15Rik, 1700028B15Rik, Afaf, equatorin

MMRRC Submission

039062-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94907267-94928843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94907655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 270 (S270T)

Ref Sequence

ENSEMBL: ENSMUSP00000030309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030309] [ENSMUST00000107097]

AlphaFold

Q9D9V2

Predicted Effect

probably benign
Transcript: ENSMUST00000030309
AA Change: S270T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030309
Gene: ENSMUSG00000028575
AA Change: S270T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Afaf	64	252	1.2e-95	PFAM
low complexity region	259	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107097

SMART Domains

Protein: ENSMUSP00000102714
Gene: ENSMUSG00000028575

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Afaf	64	250	1.1e-86	PFAM

Meta Mutation Damage Score

0.0983

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 94.7%

Validation Efficiency

89% (34/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,248,489		probably benign	Het
2810474O19Rik	G	A	6: 149,328,269	A938T	probably damaging	Het
9230110F15Rik	T	C	9: 35,839,070	D102G	probably damaging	Het
Abca13	T	C	11: 9,298,740	V2829A	probably benign	Het
Adk	G	T	14: 21,092,428	D26Y	probably damaging	Het
Bpifb9a	T	C	2: 154,264,225		probably benign	Het
Dap	G	A	15: 31,272,380		probably benign	Het
Fam193a	A	G	5: 34,462,143	D764G	probably damaging	Het
Fbxl6	A	T	15: 76,537,083		probably null	Het
Gm13212	T	C	4: 145,622,175	Y61H	possibly damaging	Het
Gm3259	A	C	5: 95,341,327	T210P	probably damaging	Het
Gtf3c1	A	T	7: 125,668,842		probably benign	Het
H2-D1	G	C	17: 35,263,861	M122I	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map1s	C	A	8: 70,914,188	P579Q	probably damaging	Het
Mapk10	A	G	5: 102,987,280		probably benign	Het
Mllt6	C	G	11: 97,664,998	C51W	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Neurod2	G	T	11: 98,327,321	T339K	probably benign	Het
Nfya	G	A	17: 48,395,787	Q29*	probably null	Het
Nipbl	A	T	15: 8,361,718	D257E	probably benign	Het
Pex5	G	A	6: 124,399,937		probably benign	Het
Prx	T	A	7: 27,518,294	F879Y	probably damaging	Het
Scai	G	A	2: 39,075,152	T560M	possibly damaging	Het
Slfn10-ps	T	C	11: 83,035,409		noncoding transcript	Het
Spdye4b	A	G	5: 143,195,668		probably benign	Het
Ss18l1	A	G	2: 180,059,354	Y287C	probably damaging	Het
Tpbg	C	A	9: 85,844,564	F195L	unknown	Het
Trbv16	T	C	6: 41,151,847		probably benign	Het
Unc5c	A	G	3: 141,803,840	T620A	probably benign	Het
Vangl1	A	G	3: 102,183,994	S259P	probably damaging	Het
Vmn1r52	T	A	6: 90,179,464	M71K	probably damaging	Het
Vmn2r23	A	T	6: 123,742,135	I816F	probably damaging	Het

Other mutations in Eqtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0088:Eqtn	UTSW	4	94919990	missense	probably damaging	0.99
R1605:Eqtn	UTSW	4	94928350	missense	possibly damaging	0.83
R2290:Eqtn	UTSW	4	94926942	small deletion	probably benign
R4072:Eqtn	UTSW	4	94919962	missense	possibly damaging	0.91
R4073:Eqtn	UTSW	4	94919962	missense	possibly damaging	0.91
R4074:Eqtn	UTSW	4	94919962	missense	possibly damaging	0.91
R4075:Eqtn	UTSW	4	94919962	missense	possibly damaging	0.91
R5379:Eqtn	UTSW	4	94907588	missense	probably damaging	1.00
R5485:Eqtn	UTSW	4	94924956	missense	possibly damaging	0.93
R5691:Eqtn	UTSW	4	94923728	critical splice acceptor site	probably null
R6252:Eqtn	UTSW	4	94907769	missense	probably damaging	0.98
R6707:Eqtn	UTSW	4	94907819	missense	probably benign	0.01
R6873:Eqtn	UTSW	4	94927021	missense	probably damaging	0.99
R7209:Eqtn	UTSW	4	94925569	missense	probably damaging	1.00
R7235:Eqtn	UTSW	4	94923699	missense	probably damaging	0.98
R7651:Eqtn	UTSW	4	94923707	missense	possibly damaging	0.52
R7652:Eqtn	UTSW	4	94928337	missense	probably damaging	1.00
X0063:Eqtn	UTSW	4	94928318	critical splice donor site	probably null
Z1177:Eqtn	UTSW	4	94907551	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GGCATCAATCTCATTCATTGCCTGCAT -3'
(R):5'- GGCTGCATACACCAGATATTGCTAGTT -3'

Sequencing Primer
(F):5'- ATAGGGCCTCTCTCAACGATG -3'
(R):5'- CAACTAAAGACTACTCTTGGTGTGTG -3'

Posted On

2013-11-08