Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Spef1'

431901

Institutional Source

Beutler Lab

Gene Symbol

Spef1

Ensembl Gene

ENSMUSG00000027329

Gene Name

sperm flagellar 1

Synonyms

4931426K16Rik

MMRRC Submission

043085-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5527 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

131012181-131016730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131014661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 87 (D87V)

Ref Sequence

ENSEMBL: ENSMUSP00000105847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028801] [ENSMUST00000089510] [ENSMUST00000110218]

AlphaFold

Q99JL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028801
AA Change: D87V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028801
Gene: ENSMUSG00000027329
AA Change: D87V

Domain	Start	End	E-Value	Type
Pfam:CH_2	13	109	9.3e-36	PFAM
Pfam:CAMSAP_CH	14	96	7.9e-24	PFAM
coiled coil region	182	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089510

SMART Domains

Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267

Domain	Start	End	E-Value	Type
Pfam:CENP-B_N	2	56	1.6e-26	PFAM
CENPB	71	136	7.05e-23	SMART
low complexity region	140	158	N/A	INTRINSIC
Pfam:DDE_1	222	384	4.9e-44	PFAM
coiled coil region	402	439	N/A	INTRINSIC
Pfam:CENP-B_dimeris	499	598	5.8e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110218
AA Change: D87V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105847
Gene: ENSMUSG00000027329
AA Change: D87V

Domain	Start	End	E-Value	Type
Pfam:CH	10	103	1.2e-7	PFAM
Pfam:DUF1042	13	164	5.7e-58	PFAM
Pfam:CAMSAP_CH	14	96	9e-23	PFAM
coiled coil region	182	234	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127987
AA Change: D80V

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114178
Gene: ENSMUSG00000027329
AA Change: D80V

Domain	Start	End	E-Value	Type
Pfam:CH_2	7	103	1.7e-36	PFAM
Pfam:CAMSAP_CH	8	90	6e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137176

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,278,842 (GRCm39)	Y1051N	probably benign	Het
Bach1	T	C	16: 87,516,433 (GRCm39)	S325P	probably benign	Het
Baz2a	T	C	10: 127,960,786 (GRCm39)	S1529P	probably damaging	Het
Bicd1	T	C	6: 149,396,134 (GRCm39)	L168P	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,730,401 (GRCm39)	M426T	probably benign	Het
Cdk7	C	T	13: 100,866,980 (GRCm39)	V38I	probably damaging	Het
Cenpj	T	C	14: 56,764,440 (GRCm39)	Y1324C	probably damaging	Het
Cplane2	C	A	4: 140,947,303 (GRCm39)	A228D	probably damaging	Het
Ddx47	C	A	6: 134,988,657 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,328,014 (GRCm39)	Q3370*	probably null	Het
Dnah6	C	T	6: 73,136,212 (GRCm39)	V976I	probably benign	Het
Dock7	C	T	4: 98,842,105 (GRCm39)		probably benign	Het
Dpy19l3	A	T	7: 35,413,555 (GRCm39)	I362N	possibly damaging	Het
Fam118a	A	T	15: 84,942,999 (GRCm39)	T343S	probably benign	Het
Fcgbp	T	A	7: 27,793,060 (GRCm39)	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,883,746 (GRCm39)	Y83C	probably damaging	Het
Flt4	T	C	11: 49,525,581 (GRCm39)	I709T	probably damaging	Het
Gga3	G	T	11: 115,478,262 (GRCm39)	A510D	probably damaging	Het
Heatr1	T	C	13: 12,417,641 (GRCm39)	I264T	probably damaging	Het
Heatr1	T	C	13: 12,419,829 (GRCm39)	I384T	probably benign	Het
Hes2	T	C	4: 152,244,849 (GRCm39)	V106A	probably benign	Het
Igf1r	T	A	7: 67,857,569 (GRCm39)	M1083K	probably damaging	Het
Il7r	A	T	15: 9,513,010 (GRCm39)	D166E	probably benign	Het
Ipo4	G	A	14: 55,869,507 (GRCm39)		probably null	Het
Klk1b26	T	C	7: 43,662,187 (GRCm39)	I15T	probably benign	Het
Krt42	T	C	11: 100,154,121 (GRCm39)		probably benign	Het
Lag3	T	C	6: 124,885,592 (GRCm39)	T263A	probably damaging	Het
Lilra6	T	A	7: 3,917,586 (GRCm39)		probably benign	Het
Lrrc31	T	A	3: 30,745,377 (GRCm39)	H90L	probably damaging	Het
Lvrn	G	A	18: 47,006,870 (GRCm39)	D331N	probably damaging	Het
Me2	A	T	18: 73,924,187 (GRCm39)	W342R	probably damaging	Het
Mob2	A	G	7: 141,563,147 (GRCm39)	F220S	probably damaging	Het
Mroh4	A	G	15: 74,486,865 (GRCm39)	I342T	probably damaging	Het
Naa15	T	C	3: 51,349,368 (GRCm39)	Y46H	probably damaging	Het
Neb	A	G	2: 52,224,465 (GRCm39)	V10A	unknown	Het
Nlrc5	A	G	8: 95,217,044 (GRCm39)	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,041,921 (GRCm39)	T2A	possibly damaging	Het
Nrros	T	C	16: 31,963,288 (GRCm39)	N207S	probably damaging	Het
Or52m2	A	T	7: 102,263,768 (GRCm39)	S143T	probably benign	Het
Or7c70	C	T	10: 78,683,609 (GRCm39)	V47M	probably benign	Het
Pcare	A	T	17: 72,059,635 (GRCm39)	V14D	probably damaging	Het
Ptprz1	C	T	6: 23,000,052 (GRCm39)	T714I	possibly damaging	Het
Rp1	T	C	1: 4,416,616 (GRCm39)	T1499A	possibly damaging	Het
Rubcn	T	C	16: 32,647,081 (GRCm39)	K771E	probably damaging	Het
Sbds	T	C	5: 130,275,247 (GRCm39)	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,384,801 (GRCm39)	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Supv3l1	C	T	10: 62,265,608 (GRCm39)	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,889,769 (GRCm39)	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,226,739 (GRCm39)	L176P	probably damaging	Het
Tma16	A	G	8: 66,936,776 (GRCm39)	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,143,847 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,045,164 (GRCm39)	P146S	probably benign	Het
Ubr4	T	A	4: 139,208,099 (GRCm39)	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,919,987 (GRCm39)	D224G	probably damaging	Het
Uxs1	T	C	1: 43,819,240 (GRCm39)	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,234,483 (GRCm39)	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,507,575 (GRCm39)	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,165,981 (GRCm39)	N524D	probably benign	Het
Xrn2	A	T	2: 146,871,675 (GRCm39)	I366L	probably benign	Het
Zfp236	A	T	18: 82,676,159 (GRCm39)	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261 (GRCm39)	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,046,725 (GRCm39)	E415Q	probably benign	Het

Other mutations in Spef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02148:Spef1	APN	2	131,014,688 (GRCm39)	missense	probably benign	0.00
IGL02576:Spef1	APN	2	131,016,562 (GRCm39)	missense	possibly damaging	0.51
R0380:Spef1	UTSW	2	131,014,332 (GRCm39)	splice site	probably benign
R4758:Spef1	UTSW	2	131,014,661 (GRCm39)	splice site	probably null
R5062:Spef1	UTSW	2	131,015,201 (GRCm39)	missense	probably damaging	1.00
R5166:Spef1	UTSW	2	131,016,511 (GRCm39)	missense	probably damaging	1.00
R7330:Spef1	UTSW	2	131,014,653 (GRCm39)	missense	probably damaging	1.00
R9126:Spef1	UTSW	2	131,013,829 (GRCm39)	missense	probably damaging	1.00
R9481:Spef1	UTSW	2	131,014,625 (GRCm39)	missense	probably damaging	0.99
Z1176:Spef1	UTSW	2	131,013,701 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTTATCACCACAGCAGGGCTC -3'
(R):5'- ATGATCTTGACAGGCAGGCTG -3'

Sequencing Primer
(F):5'- AGCAGGGCTCTCCATGTCTG -3'
(R):5'- CAGGCAGGCTGGGACTG -3'

Posted On

2016-10-05