Mutagenetix > Incidental Mutation

Incidental Mutation 'R6252:Eqtn'

506272

Institutional Source

Beutler Lab

Gene Symbol

Eqtn

Ensembl Gene

ENSMUSG00000028575

Gene Name

equatorin, sperm acrosome associated

Synonyms

Afaf, equatorin, 1700028B15Rik, 4930579C15Rik

MMRRC Submission

044369-MU

Accession Numbers

Essential gene?

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

Stock #

R6252 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94795504-94817080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94796006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 232 (S232T)

Ref Sequence

ENSEMBL: ENSMUSP00000102714 (fasta)

Gene Model

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

AlphaFold

Q9D9V2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030309
AA Change: S232T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030309
Gene: ENSMUSG00000028575
AA Change: S232T

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 damaging
Transcript: ENSMUST00000107097
AA Change: S232T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102714
Gene: ENSMUSG00000028575
AA Change: S232T

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,122,305 (GRCm39)	I393V	probably benign	Het
Agl	C	T	3: 116,580,878 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,620,561 (GRCm39)	E1097G	possibly damaging	Het
Aoc1	A	G	6: 48,883,015 (GRCm39)	H297R	probably benign	Het
AW146154	G	A	7: 41,130,811 (GRCm39)	P102S	probably benign	Het
Cap1	A	G	4: 122,766,193 (GRCm39)	V15A	probably benign	Het
Cavin2	A	G	1: 51,328,828 (GRCm39)	N95S	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Col8a1	A	G	16: 57,447,368 (GRCm39)	V714A	unknown	Het
Crispld1	A	G	1: 17,819,731 (GRCm39)	E243G	probably benign	Het
Daam1	G	A	12: 72,035,723 (GRCm39)	G964R	probably damaging	Het
Elapor2	T	C	5: 9,460,693 (GRCm39)	Y205H	probably damaging	Het
Epg5	T	C	18: 78,028,382 (GRCm39)	F1308L	probably damaging	Het
Esyt1	T	C	10: 128,347,771 (GRCm39)	E973G	probably benign	Het
Fbxl13	T	A	5: 21,826,499 (GRCm39)	M96L	possibly damaging	Het
Frem2	A	T	3: 53,479,869 (GRCm39)	F1941L	probably damaging	Het
Gbf1	T	C	19: 46,259,995 (GRCm39)	V1050A	probably benign	Het
Hecw1	T	C	13: 14,446,664 (GRCm39)	H721R	probably damaging	Het
Idh1	T	G	1: 65,207,690 (GRCm39)	Q163P	probably benign	Het
Kctd15	A	G	7: 34,341,348 (GRCm39)	V193A	probably benign	Het
Npas3	A	G	12: 54,115,673 (GRCm39)	Y834C	probably damaging	Het
Opn4	C	T	14: 34,316,788 (GRCm39)	V334I	probably benign	Het
Or10w3	A	T	19: 13,704,419 (GRCm39)	S265C	probably damaging	Het
Pappa	A	G	4: 65,107,649 (GRCm39)	M687V	probably benign	Het
Pcdhgc5	T	C	18: 37,954,583 (GRCm39)	F619S	probably damaging	Het
Pdlim2	G	T	14: 70,405,137 (GRCm39)	Q243K	probably damaging	Het
Pkd1	T	C	17: 24,800,200 (GRCm39)	L2987P	probably damaging	Het
Plcz1	A	G	6: 139,953,329 (GRCm39)		probably null	Het
Prpf6	C	T	2: 181,289,156 (GRCm39)	A615V	probably damaging	Het
Pwp1	T	C	10: 85,710,373 (GRCm39)	V5A	probably benign	Het
Rsph10b	T	A	5: 143,873,939 (GRCm39)	D13E	possibly damaging	Het
Slc44a3	T	A	3: 121,307,386 (GRCm39)	D200V	probably damaging	Het
Spata31h1	T	C	10: 82,119,588 (GRCm39)	Q4474R	probably benign	Het
St7l	T	C	3: 104,826,819 (GRCm39)		probably null	Het
Stc2	T	A	11: 31,310,346 (GRCm39)	D230V	probably damaging	Het
Syne2	C	A	12: 76,016,210 (GRCm39)	T3264K	probably benign	Het
Trp73	C	A	4: 154,148,854 (GRCm39)	D252Y	probably damaging	Het
Ubr1	T	C	2: 120,737,376 (GRCm39)	D1056G	probably benign	Het
Vcan	C	T	13: 89,839,339 (GRCm39)	W1108*	probably null	Het
Zfp772	G	T	7: 7,207,018 (GRCm39)	S224R	possibly damaging	Het
Zfp804b	A	T	5: 6,819,478 (GRCm39)	V1159E	probably damaging	Het
Zfp981	T	G	4: 146,621,970 (GRCm39)	S298R	probably benign	Het
Zmat3	A	G	3: 32,395,770 (GRCm39)	F246L	possibly damaging	Het
Zranb1	A	G	7: 132,585,633 (GRCm39)	T720A	probably benign	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
R4075: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
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'- GCTTGACTCGTCGGTTAAGACTG -3'
(R):5'- GCTGCATACACCAGATATTGC -3'

Sequencing Primer
(F):5'- GTTTGATTGGAGCCTGCAGAAAAATC -3'
(R):5'- ACACCAGATATTGCTAGTTTATTCAC -3'

Posted On

2018-03-15