Mutagenetix > Incidental Mutation

Incidental Mutation 'R4075:Eqtn'

316509

Institutional Source

Beutler Lab

Gene Symbol

Eqtn

Ensembl Gene

ENSMUSG00000028575

Gene Name

equatorin, sperm acrosome associated

Synonyms

Afaf, equatorin, 1700028B15Rik, 4930579C15Rik

MMRRC Submission

040974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94795504-94817080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94808199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 201 (I201T)

Ref Sequence

ENSEMBL: ENSMUSP00000102714 (fasta)

Gene Model

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

AlphaFold

Q9D9V2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030309
AA Change: I201T

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030309
Gene: ENSMUSG00000028575
AA Change: I201T

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

possibly damaging
Transcript: ENSMUST00000107097
AA Change: I201T

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102714
Gene: ENSMUSG00000028575
AA Change: I201T

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,297,981 (GRCm39)	L206H	probably benign	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Adgrf5	T	G	17: 43,761,086 (GRCm39)	V927G	probably damaging	Het
Agtr1a	A	G	13: 30,565,817 (GRCm39)	N294S	probably damaging	Het
Aspm	T	C	1: 139,402,023 (GRCm39)	L1229S	probably damaging	Het
Chmp7	A	T	14: 69,969,730 (GRCm39)	V70E	probably damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Cubn	A	G	2: 13,318,810 (GRCm39)	V2963A	possibly damaging	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah5	T	A	15: 28,293,937 (GRCm39)	D1347E	probably benign	Het
Dsg1a	T	G	18: 20,473,127 (GRCm39)	N733K	possibly damaging	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Fsip2	C	T	2: 82,813,245 (GRCm39)	S3188L	probably benign	Het
Herc1	A	G	9: 66,325,774 (GRCm39)	D1416G	probably benign	Het
Hormad1	T	C	3: 95,485,514 (GRCm39)	M234T	possibly damaging	Het
Ifi44	A	T	3: 151,451,613 (GRCm39)	N164K	probably benign	Het
Ikzf3	G	T	11: 98,358,469 (GRCm39)	Y289*	probably null	Het
Il17rc	A	G	6: 113,458,158 (GRCm39)	D327G	possibly damaging	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Lce1l	C	T	3: 92,757,540 (GRCm39)	S106N	unknown	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Map4k4	T	C	1: 40,062,622 (GRCm39)	Y1196H	probably damaging	Het
Mtr	C	A	13: 12,230,298 (GRCm39)		probably null	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Nxt1	A	G	2: 148,517,652 (GRCm39)	D131G	probably damaging	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Or5bw2	T	C	7: 6,573,142 (GRCm39)	S51P	probably benign	Het
Pcdh7	A	G	5: 57,879,150 (GRCm39)	R902G	probably damaging	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Ptpn1	T	A	2: 167,818,433 (GRCm39)		probably null	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Slc28a2b	T	G	2: 122,344,892 (GRCm39)	V166G	probably benign	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Ssrp1	A	C	2: 84,875,912 (GRCm39)	K590N	possibly damaging	Het
Svs5	T	C	2: 164,079,238 (GRCm39)	E223G	probably benign	Het
Tab3	G	T	X: 84,658,063 (GRCm39)	V197F	probably damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,818,427 (GRCm39)	T617I	possibly damaging	Het
Zfp677	T	C	17: 21,618,421 (GRCm39)	Y493H	probably damaging	Het

Other mutations in Eqtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0088:Eqtn	UTSW	4	94,808,227 (GRCm39)	missense	probably damaging	0.99
R0904:Eqtn	UTSW	4	94,795,892 (GRCm39)	missense	probably benign	0.18
R1605:Eqtn	UTSW	4	94,816,587 (GRCm39)	missense	possibly damaging	0.83
R2290:Eqtn	UTSW	4	94,815,179 (GRCm39)	small deletion	probably benign
R4072:Eqtn	UTSW	4	94,808,199 (GRCm39)	missense	possibly damaging	0.91
R4073:Eqtn	UTSW	4	94,808,199 (GRCm39)	missense	possibly damaging	0.91
R4074:Eqtn	UTSW	4	94,808,199 (GRCm39)	missense	possibly damaging	0.91
R5379:Eqtn	UTSW	4	94,795,825 (GRCm39)	missense	probably damaging	1.00
R5485:Eqtn	UTSW	4	94,813,193 (GRCm39)	missense	possibly damaging	0.93
R5691:Eqtn	UTSW	4	94,811,965 (GRCm39)	critical splice acceptor site	probably null
R6252:Eqtn	UTSW	4	94,796,006 (GRCm39)	missense	probably damaging	0.98
R6707:Eqtn	UTSW	4	94,796,056 (GRCm39)	missense	probably benign	0.01
R6873:Eqtn	UTSW	4	94,815,258 (GRCm39)	missense	probably damaging	0.99
R7209:Eqtn	UTSW	4	94,813,806 (GRCm39)	missense	probably damaging	1.00
R7235:Eqtn	UTSW	4	94,811,936 (GRCm39)	missense	probably damaging	0.98
R7651:Eqtn	UTSW	4	94,811,944 (GRCm39)	missense	possibly damaging	0.52
R7652:Eqtn	UTSW	4	94,816,574 (GRCm39)	missense	probably damaging	1.00
R9566:Eqtn	UTSW	4	94,813,185 (GRCm39)	missense	probably damaging	0.98
X0063:Eqtn	UTSW	4	94,816,555 (GRCm39)	critical splice donor site	probably null
Z1177:Eqtn	UTSW	4	94,795,788 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- CCCATGGCTAATGCTTAGAGG -3'
(R):5'- ACGGGCAGATACATTGTGTTTC -3'

Sequencing Primer
(F):5'- GCTAATGCTTAGAGGAAGTGGATTC -3'
(R):5'- GGCAGATACATTGTGTTTCTTATCC -3'

Posted On

2015-05-15