Mutagenetix > Incidental Mutation

Incidental Mutation 'R6707:Eqtn'

528970

Institutional Source

Beutler Lab

Gene Symbol

Eqtn

Ensembl Gene

ENSMUSG00000028575

Gene Name

equatorin, sperm acrosome associated

Synonyms

Afaf, equatorin, 1700028B15Rik, 4930579C15Rik

MMRRC Submission

044825-MU

Accession Numbers

Essential gene?

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

Stock #

R6707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94795504-94817080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94796056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 215 (D215G)

Ref Sequence

ENSEMBL: ENSMUSP00000102714 (fasta)

Gene Model

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

AlphaFold

Q9D9V2

Predicted Effect

probably benign
Transcript: ENSMUST00000030309
AA Change: D215G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030309
Gene: ENSMUSG00000028575
AA Change: D215G

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
AA Change: D215G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102714
Gene: ENSMUSG00000028575
AA Change: D215G

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: 98.4%
20x: 95.6%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	C	10: 106,920,783 (GRCm39)	Y109C	probably damaging	Het
Actg2	C	T	6: 83,490,076 (GRCm39)	W341*	probably null	Het
Adam29	C	T	8: 56,325,135 (GRCm39)	G440R	probably damaging	Het
Arfgef3	T	C	10: 18,496,903 (GRCm39)	D1153G	probably benign	Het
Arhgef28	T	C	13: 98,211,624 (GRCm39)	T120A	possibly damaging	Het
Arhgef28	G	T	13: 98,073,224 (GRCm39)	Q1371K	probably damaging	Het
BC051665	A	T	13: 60,932,222 (GRCm39)	D122E	probably benign	Het
Boc	A	T	16: 44,320,979 (GRCm39)	I227N	possibly damaging	Het
Clca3b	T	A	3: 144,550,288 (GRCm39)	Q219L	probably benign	Het
Cplane1	G	A	15: 8,252,606 (GRCm39)	V1943M	probably benign	Het
Cyp2c66	T	A	19: 39,174,944 (GRCm39)	F448Y	probably damaging	Het
Ddx5	A	G	11: 106,673,058 (GRCm39)	M489T	probably benign	Het
Dnm1	T	C	2: 32,226,253 (GRCm39)	D312G	probably null	Het
Ecpas	T	A	4: 58,879,101 (GRCm39)	I63L	possibly damaging	Het
Evi5l	A	T	8: 4,256,322 (GRCm39)	T706S	probably benign	Het
Gtf2f1	T	C	17: 57,314,770 (GRCm39)	E90G	probably benign	Het
Hpx	A	T	7: 105,244,682 (GRCm39)	S168T	probably benign	Het
Ipo4	C	A	14: 55,866,361 (GRCm39)	V773L	possibly damaging	Het
Ireb2	C	T	9: 54,811,245 (GRCm39)	T716I	probably damaging	Het
Klhl21	A	G	4: 152,096,784 (GRCm39)	D350G	possibly damaging	Het
Myh13	A	T	11: 67,241,086 (GRCm39)	N821I	probably damaging	Het
Nipbl	G	T	15: 8,354,043 (GRCm39)	T1698K	probably benign	Het
Nod2	A	G	8: 89,391,817 (GRCm39)	H686R	probably benign	Het
Ntf3	A	G	6: 126,141,691 (GRCm39)		probably null	Het
Or6c215	G	T	10: 129,637,689 (GRCm39)	A235D	probably damaging	Het
Or6c69	T	C	10: 129,747,608 (GRCm39)	T180A	probably benign	Het
Parp9	A	T	16: 35,768,303 (GRCm39)	H161L	probably damaging	Het
Pkhd1l1	A	G	15: 44,392,539 (GRCm39)	N1625D	probably benign	Het
Rdx	T	C	9: 51,974,954 (GRCm39)	F30S	probably damaging	Het
Smo	T	A	6: 29,736,173 (GRCm39)	V55E	probably benign	Het
Sox9	C	A	11: 112,673,698 (GRCm39)	N96K	probably damaging	Het
Spp2	T	G	1: 88,345,016 (GRCm39)		probably null	Het
Tex46	A	G	4: 136,340,161 (GRCm39)	N82S	probably benign	Het
Timm22	C	T	11: 76,298,151 (GRCm39)	L41F	possibly damaging	Het
Tmem30a	A	T	9: 79,681,547 (GRCm39)	Y207*	probably null	Het
Tmem70	T	C	1: 16,747,531 (GRCm39)	V216A	probably damaging	Het
Tspan18	T	C	2: 93,040,302 (GRCm39)	N151S	probably benign	Het
Vmn2r90	T	C	17: 17,948,364 (GRCm39)	C537R	probably damaging	Het
Vps50	A	G	6: 3,545,583 (GRCm39)	Y339C	probably damaging	Het
Zp2	C	T	7: 119,733,145 (GRCm39)	G599R	possibly 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
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
R6252:Eqtn	UTSW	4	94,796,006 (GRCm39)	missense	probably damaging	0.98
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'- ACTGTTTGATTGGAGCCTGC -3'
(R):5'- GCTGCATACACCAGATATTGC -3'

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

Posted On

2018-07-24