Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Spef1l'

263881

Institutional Source

Beutler Lab

Gene Symbol

Spef1l

Ensembl Gene

ENSMUSG00000073795

Gene Name

sperm flagellar 1 like

Synonyms

LOC381933, 6430531B16Rik

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139552216-139558668 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 139555878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000097970] [ENSMUST00000106069] [ENSMUST00000121412] [ENSMUST00000210254] [ENSMUST00000209335]

AlphaFold

Q3V2J1

Predicted Effect

probably benign
Transcript: ENSMUST00000026546

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	151	5.9e-35	PFAM
Pfam:Reprolysin_5	193	371	1e-22	PFAM
Pfam:Reprolysin_4	193	384	1.7e-16	PFAM
Pfam:Reprolysin	195	394	2.7e-70	PFAM
Pfam:Reprolysin_2	214	384	1.6e-16	PFAM
Pfam:Reprolysin_3	218	339	4.9e-21	PFAM
DISIN	411	486	5.16e-36	SMART
ACR	487	606	2.15e-35	SMART
EGF	613	642	3.06e-1	SMART
transmembrane domain	660	682	N/A	INTRINSIC
low complexity region	732	762	N/A	INTRINSIC
low complexity region	770	783	N/A	INTRINSIC
low complexity region	784	812	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097970

SMART Domains

Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795

Domain	Start	End	E-Value	Type
Pfam:CH_2	22	118	3e-35	PFAM
Pfam:CAMSAP_CH	23	105	1.2e-21	PFAM
coiled coil region	237	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106069

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	152	4e-30	PFAM
Pfam:Reprolysin_5	194	372	9.6e-23	PFAM
Pfam:Reprolysin_4	194	385	1.6e-16	PFAM
Pfam:Reprolysin	196	395	2.2e-73	PFAM
Pfam:Reprolysin_2	215	385	2.9e-18	PFAM
Pfam:Reprolysin_3	219	340	6.6e-21	PFAM
DISIN	412	487	5.16e-36	SMART
ACR	488	607	2.15e-35	SMART
EGF	614	643	3.06e-1	SMART
transmembrane domain	661	683	N/A	INTRINSIC
low complexity region	733	763	N/A	INTRINSIC
low complexity region	771	784	N/A	INTRINSIC
low complexity region	785	813	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121412

SMART Domains

Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795

Domain	Start	End	E-Value	Type
Pfam:DUF1042	22	153	4.5e-35	PFAM
Pfam:CAMSAP_CH	23	105	1.3e-20	PFAM
low complexity region	230	246	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139218

Predicted Effect

probably benign
Transcript: ENSMUST00000210254

Predicted Effect

probably benign
Transcript: ENSMUST00000209335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156647

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,372 (GRCm39)	Y248*	probably null	Het
Acta2	T	C	19: 34,220,752 (GRCm39)	I319V	probably benign	Het
Alox15	A	T	11: 70,235,703 (GRCm39)	N585K	probably benign	Het
Ank	T	A	15: 27,571,700 (GRCm39)	I324N	probably damaging	Het
Ank1	A	G	8: 23,574,813 (GRCm39)	N99D	probably damaging	Het
As3mt	T	C	19: 46,703,717 (GRCm39)		probably benign	Het
Atg4b	C	T	1: 93,703,426 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,047,541 (GRCm39)	V705D	probably damaging	Het
Bves	T	C	10: 45,219,148 (GRCm39)	V82A	probably benign	Het
Cad	C	A	5: 31,231,481 (GRCm39)	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,253,740 (GRCm39)	V387A	probably benign	Het
Csnk2a1	T	A	2: 152,105,134 (GRCm39)	F181Y	probably damaging	Het
Cwc22	A	T	2: 77,754,823 (GRCm39)		probably benign	Het
Ddx18	A	G	1: 121,493,877 (GRCm39)	S36P	possibly damaging	Het
Dnai2	T	A	11: 114,642,756 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,769,008 (GRCm39)	M765K	probably benign	Het
Fitm2	T	C	2: 163,311,511 (GRCm39)	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,503,454 (GRCm39)	E58G	probably benign	Het
Foxs1	A	G	2: 152,774,156 (GRCm39)	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415 (GRCm39)	N184S	probably benign	Het
Gata6	T	C	18: 11,063,124 (GRCm39)	L464P	probably damaging	Het
Gm17332	T	C	11: 31,132,384 (GRCm39)	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,738,220 (GRCm39)	M9L	probably benign	Het
Ldb3	T	A	14: 34,251,418 (GRCm39)	*623L	probably null	Het
Lrrc27	A	G	7: 138,798,223 (GRCm39)	D106G	probably damaging	Het
Ly6f	A	G	15: 75,143,577 (GRCm39)	N95D	probably benign	Het
Lyst	A	G	13: 13,844,512 (GRCm39)	I1901V	probably benign	Het
Mboat2	A	G	12: 24,932,718 (GRCm39)	Y70C	probably damaging	Het
Mmut	G	A	17: 41,269,247 (GRCm39)	G610D	probably damaging	Het
Mroh1	T	A	15: 76,292,736 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,399,871 (GRCm39)	H448R	unknown	Het
Myh2	A	G	11: 67,076,012 (GRCm39)	N733S	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nlrp1a	A	T	11: 71,014,491 (GRCm39)	I253N	probably damaging	Het
Ocrl	A	G	X: 47,022,304 (GRCm39)	E258G	probably benign	Het
Or2w1	T	A	13: 21,317,299 (GRCm39)	M118K	probably damaging	Het
Or6c2	A	T	10: 129,363,012 (GRCm39)	R305S	probably benign	Het
Pak1	C	A	7: 97,515,321 (GRCm39)	S115*	probably null	Het
Pilrb1	C	T	5: 137,853,195 (GRCm39)	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,742,256 (GRCm39)	Y1016*	probably null	Het
Prmt3	C	A	7: 49,431,760 (GRCm39)	P121Q	probably damaging	Het
Rhox6	T	A	X: 36,916,507 (GRCm39)	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,292,949 (GRCm39)	F49L	probably benign	Het
Scn2a	A	C	2: 65,579,129 (GRCm39)	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,314,738 (GRCm39)	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,506,624 (GRCm39)	E905*	probably null	Het
Secisbp2l	A	T	2: 125,592,206 (GRCm39)	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,367,058 (GRCm39)	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658 (GRCm39)	F211L	probably benign	Het
Tab1	C	T	15: 80,032,461 (GRCm39)	L23F	probably benign	Het
Thsd7b	G	A	1: 129,977,599 (GRCm39)	C1078Y	probably benign	Het
Ttn	A	T	2: 76,644,542 (GRCm39)	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 102,899,870 (GRCm39)	V354A	probably benign	Het
Usp31	A	G	7: 121,278,736 (GRCm39)	S210P	probably damaging	Het
Wdr12	T	C	1: 60,126,221 (GRCm39)	D198G	probably benign	Het
Wrap53	A	G	11: 69,454,144 (GRCm39)	V298A	probably benign	Het
Xirp2	A	G	2: 67,340,491 (GRCm39)	I911V	probably benign	Het
Zcchc2	T	C	1: 105,918,752 (GRCm39)	M78T	unknown	Het

Other mutations in Spef1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Spef1l	APN	7	139,558,016 (GRCm39)	missense	probably damaging	1.00
IGL01900:Spef1l	APN	7	139,552,483 (GRCm39)	missense	probably damaging	1.00
IGL03395:Spef1l	APN	7	139,556,589 (GRCm39)	splice site	probably benign
R0562:Spef1l	UTSW	7	139,557,026 (GRCm39)	missense	probably benign	0.01
R1121:Spef1l	UTSW	7	139,556,543 (GRCm39)	missense	probably benign	0.00
R1474:Spef1l	UTSW	7	139,556,555 (GRCm39)	missense	probably benign
R1844:Spef1l	UTSW	7	139,556,005 (GRCm39)	missense	probably benign	0.06
R2680:Spef1l	UTSW	7	139,558,474 (GRCm39)	missense	probably damaging	1.00
R4478:Spef1l	UTSW	7	139,555,773 (GRCm39)	critical splice donor site	probably null
R4576:Spef1l	UTSW	7	139,558,043 (GRCm39)	missense	probably damaging	1.00
R4577:Spef1l	UTSW	7	139,558,043 (GRCm39)	missense	probably damaging	1.00
R5037:Spef1l	UTSW	7	139,558,587 (GRCm39)	missense	possibly damaging	0.84
R5935:Spef1l	UTSW	7	139,556,526 (GRCm39)	missense	probably benign	0.37
R6314:Spef1l	UTSW	7	139,556,402 (GRCm39)	missense	possibly damaging	0.92
R6361:Spef1l	UTSW	7	139,556,585 (GRCm39)	missense	possibly damaging	0.55
R7326:Spef1l	UTSW	7	139,558,458 (GRCm39)	critical splice donor site	probably null
R7386:Spef1l	UTSW	7	139,555,965 (GRCm39)	nonsense	probably null
R7658:Spef1l	UTSW	7	139,556,531 (GRCm39)	missense	probably benign
R8300:Spef1l	UTSW	7	139,557,091 (GRCm39)	missense	probably damaging	1.00
R9250:Spef1l	UTSW	7	139,556,395 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCAGAAACTCAGCCAAGGAG -3'
(R):5'- AAGGTCCTGAGCTGATGGTG -3'

Sequencing Primer
(F):5'- CTCAGCCAAGGAGTGTGAAGC -3'
(R):5'- GTCTATTTGTCATACAGGCCTACAG -3'

Posted On

2015-02-05