Mutagenetix > Incidental Mutation

Incidental Mutation 'R9481:Spef1'

716224

Institutional Source

Beutler Lab

Gene Symbol

Spef1

Ensembl Gene

ENSMUSG00000027329

Gene Name

sperm flagellar 1

Synonyms

4931426K16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9481 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131012181-131016730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131014625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 99 (V99E)

Ref Sequence

ENSEMBL: ENSMUSP00000028801 (fasta)

Gene Model

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

AlphaFold

Q99JL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028801
AA Change: V99E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028801
Gene: ENSMUSG00000027329
AA Change: V99E

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: V99E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105847
Gene: ENSMUSG00000027329
AA Change: V99E

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

SMART Domains

Protein: ENSMUSP00000114178
Gene: ENSMUSG00000027329
AA Change: V92E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Acsf2	C	T	11: 94,464,044 (GRCm39)	V47M	probably benign	Het
Ahcyl1	A	T	3: 107,579,388 (GRCm39)	C215*	probably null	Het
Ambn	G	T	5: 88,613,050 (GRCm39)		probably null	Het
Apol9b	G	T	15: 77,619,656 (GRCm39)	V151L	probably benign	Het
Arid1b	A	G	17: 5,369,007 (GRCm39)	Y1070C	probably damaging	Het
Arnt	T	C	3: 95,391,092 (GRCm39)	L322P	possibly damaging	Het
Bdnf	A	G	2: 109,553,935 (GRCm39)	D103G	possibly damaging	Het
Ccdc9	A	T	7: 16,016,761 (GRCm39)	D42E	probably damaging	Het
Cdh13	A	G	8: 119,963,676 (GRCm39)	T419A		Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clasp2	A	T	9: 113,670,669 (GRCm39)	R329W	probably damaging	Het
Csmd3	A	G	15: 47,470,459 (GRCm39)	C2495R		Het
Cyba	A	T	8: 123,154,394 (GRCm39)	I43N	possibly damaging	Het
Cyp2a5	A	C	7: 26,540,511 (GRCm39)	T375P	possibly damaging	Het
Cyp2r1	A	G	7: 114,152,369 (GRCm39)	F196S	probably damaging	Het
Efcab2	T	C	1: 178,308,887 (GRCm39)	F130S	probably damaging	Het
Eml6	T	G	11: 29,788,641 (GRCm39)		probably null	Het
Fbln5	A	T	12: 101,734,728 (GRCm39)	C181*	probably null	Het
Glyatl3	A	G	17: 41,221,016 (GRCm39)	V117A	probably benign	Het
Gpc6	A	G	14: 117,163,432 (GRCm39)	S29G	probably benign	Het
Hadhb	T	G	5: 30,368,711 (GRCm39)	S13A	probably benign	Het
Hook1	C	T	4: 95,901,505 (GRCm39)	R488C	probably damaging	Het
Icam5	A	G	9: 20,948,877 (GRCm39)	Y743C	probably damaging	Het
Il15ra	T	C	2: 11,724,854 (GRCm39)	V108A	probably benign	Het
Itga1	T	C	13: 115,152,753 (GRCm39)	N223S	probably benign	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kcnk1	T	C	8: 126,756,281 (GRCm39)	C268R	probably damaging	Het
Kctd19	A	T	8: 106,120,249 (GRCm39)	L264M	probably benign	Het
Kmt2c	A	T	5: 25,554,860 (GRCm39)	I1258K	probably benign	Het
Kmt2c	A	T	5: 25,497,907 (GRCm39)	D3949E	probably damaging	Het
Lyst	G	A	13: 13,857,653 (GRCm39)	E2481K	possibly damaging	Het
Megf10	T	A	18: 57,395,090 (GRCm39)	I484N	probably benign	Het
Mettl21e	T	C	1: 44,245,857 (GRCm39)	I130V	probably benign	Het
Nmnat2	C	A	1: 152,962,181 (GRCm39)	N140K	possibly damaging	Het
Nsmaf	T	C	4: 6,414,976 (GRCm39)	K630R	probably benign	Het
Or2t1	C	T	14: 14,328,756 (GRCm38)	S215L	probably benign	Het
Or5w15	A	T	2: 87,568,576 (GRCm39)	F31I	probably benign	Het
Or8b38	G	T	9: 37,972,707 (GRCm39)	L30F	probably benign	Het
Or8g26	T	C	9: 39,096,172 (GRCm39)	S230P	possibly damaging	Het
Pafah1b2	G	A	9: 45,884,284 (GRCm39)	Q123*	probably null	Het
Ptprb	T	A	10: 116,155,353 (GRCm39)	N415K	probably benign	Het
Rev3l	T	A	10: 39,701,033 (GRCm39)	D1843E	probably benign	Het
Rps6ka4	T	A	19: 6,809,372 (GRCm39)	R427S	possibly damaging	Het
Scgb2b24	A	T	7: 33,436,795 (GRCm39)	L106I	probably benign	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Spata17	A	G	1: 186,844,756 (GRCm39)	V281A	possibly damaging	Het
Srpra	C	T	9: 35,126,015 (GRCm39)	T431I	probably damaging	Het
Stk32c	G	A	7: 138,768,173 (GRCm39)	P36L	unknown	Het
Taar7d	T	C	10: 23,903,739 (GRCm39)	I207T	probably benign	Het
Tle1	G	A	4: 72,044,504 (GRCm39)	T501I	probably damaging	Het
Tmem88b	A	T	4: 155,868,733 (GRCm39)	W172R	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vcl	G	T	14: 21,070,726 (GRCm39)	V771L	probably benign	Het
Vmn1r200	T	A	13: 22,579,911 (GRCm39)	M238K	probably damaging	Het
Vmn2r96	A	G	17: 18,793,621 (GRCm39)		probably benign	Het
Vsig10l	G	T	7: 43,112,795 (GRCm39)	E18*	probably null	Het
Wdfy3	A	G	5: 102,000,478 (GRCm39)	L2964P	probably benign	Het
Zfp334	G	A	2: 165,222,271 (GRCm39)	R591W	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	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
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
Z1176:Spef1	UTSW	2	131,013,701 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTCCAAGAAGCCCTGTTTCC -3'
(R):5'- AGAGGACTTCAGATGTCTGCCC -3'

Sequencing Primer
(F):5'- GGCCAGGTTCTTTTAGATAGACACC -3'
(R):5'- GCCCTTCCTCTGGTACGATG -3'

Posted On

2022-07-18