Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02148:Spef1'

281843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spef1

Ensembl Gene

ENSMUSG00000027329

Gene Name

sperm flagellar 1

Synonyms

4931426K16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02148

Quality Score

Status

Chromosome

Chromosomal Location

131012181-131016730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131014688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 78 (N78S)

Ref Sequence

ENSEMBL: ENSMUSP00000105847 (fasta)

Gene Model

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

AlphaFold

Q99JL1

Predicted Effect

probably benign
Transcript: ENSMUST00000028801
AA Change: N78S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028801
Gene: ENSMUSG00000027329
AA Change: N78S

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 benign
Transcript: ENSMUST00000110218
AA Change: N78S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105847
Gene: ENSMUSG00000027329
AA Change: N78S

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

unknown
Transcript: ENSMUST00000127987
AA Change: N71S

SMART Domains

Protein: ENSMUSP00000114178
Gene: ENSMUSG00000027329
AA Change: N71S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	C	T	4: 63,300,716 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,733,469 (GRCm39)	V663A	possibly damaging	Het
Cdh13	A	G	8: 119,925,697 (GRCm39)	D355G	probably damaging	Het
Cdyl2	A	G	8: 117,315,983 (GRCm39)		probably benign	Het
Csnk1g3	C	T	18: 54,086,360 (GRCm39)	R422C	probably benign	Het
Dclk1	T	A	3: 55,407,520 (GRCm39)	V233D	probably damaging	Het
Ddx59	T	C	1: 136,361,565 (GRCm39)	S477P	probably damaging	Het
Epb41l1	A	T	2: 156,353,748 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,045,835 (GRCm39)	L453P	probably damaging	Het
Esco2	T	C	14: 66,064,044 (GRCm39)	H380R	probably benign	Het
Fbxo38	T	C	18: 62,669,298 (GRCm39)	M51V	probably benign	Het
Fgb	T	C	3: 82,950,594 (GRCm39)	M387V	probably damaging	Het
Fryl	A	G	5: 73,233,302 (GRCm39)	L1522S	probably benign	Het
Gdf9	T	A	11: 53,327,569 (GRCm39)	M175K	probably benign	Het
Gm20547	C	T	17: 35,079,524 (GRCm39)	D243N	probably benign	Het
Gramd1b	T	A	9: 40,227,060 (GRCm39)	D299V	probably damaging	Het
Gsg1l	G	T	7: 125,522,671 (GRCm39)	Q186K	possibly damaging	Het
H2bl1	A	T	13: 99,120,691 (GRCm39)	F112I	probably damaging	Het
Katnip	A	T	7: 125,472,648 (GRCm39)		probably null	Het
Kcnh5	A	G	12: 74,944,426 (GRCm39)	L941P	possibly damaging	Het
Lrrc8d	A	G	5: 105,960,253 (GRCm39)	D221G	possibly damaging	Het
Med19	T	C	2: 84,515,603 (GRCm39)	F96L	probably damaging	Het
Mei1	C	A	15: 81,976,912 (GRCm39)	S589*	probably null	Het
Myh15	G	T	16: 48,936,678 (GRCm39)	D708Y	probably damaging	Het
Naca	C	T	10: 127,879,753 (GRCm39)		probably benign	Het
Or5d43	A	T	2: 88,104,566 (GRCm39)	Y276N	possibly damaging	Het
Otog	G	A	7: 45,950,011 (GRCm39)	C306Y	probably damaging	Het
Phldb1	T	C	9: 44,607,369 (GRCm39)	K1279E	probably damaging	Het
Pkd1	C	T	17: 24,798,810 (GRCm39)	T369I	probably damaging	Het
Plekha8	A	G	6: 54,592,271 (GRCm39)	S32G	probably damaging	Het
Pramel25	T	A	4: 143,519,304 (GRCm39)	Y22N	probably benign	Het
Sema4g	A	G	19: 44,984,908 (GRCm39)	T113A	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Sh3rf3	T	C	10: 58,922,562 (GRCm39)	M546T	probably benign	Het
Slc27a5	A	G	7: 12,728,878 (GRCm39)	V328A	probably damaging	Het
Tln1	T	C	4: 43,555,388 (GRCm39)	T179A	probably damaging	Het
Tmc5	T	C	7: 118,244,547 (GRCm39)	I475T	probably damaging	Het
Top2b	A	G	14: 16,400,488 (GRCm38)	Y621C	probably damaging	Het
Ttf1	T	C	2: 28,969,438 (GRCm39)	F727L	probably benign	Het
Tufm	T	C	7: 126,088,332 (GRCm39)	L75P	probably damaging	Het
Ugt1a2	T	A	1: 88,128,796 (GRCm39)	D146E	probably damaging	Het
Usp15	G	A	10: 122,963,742 (GRCm39)	T533I	probably damaging	Het
Vmn1r113	A	G	7: 20,521,747 (GRCm39)	T180A	probably benign	Het
Vmn1r205	G	T	13: 22,776,395 (GRCm39)	P236T	probably damaging	Het
Vmn2r112	T	G	17: 22,838,013 (GRCm39)	C825G	probably damaging	Het
Zfp712	T	A	13: 67,190,222 (GRCm39)	I102F	probably damaging	Het

Other mutations in Spef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5527:Spef1	UTSW	2	131,014,661 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16