Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Spef1l'

250924

Institutional Source

Beutler Lab

Gene Symbol

Spef1l

Ensembl Gene

ENSMUSG00000073795

Gene Name

sperm flagellar 1 like

Synonyms

LOC381933, 6430531B16Rik

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139552216-139558668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139558474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 41 (D41G)

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 damaging
Transcript: ENSMUST00000097970
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795
AA Change: D41G

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 damaging
Transcript: ENSMUST00000121412
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795
AA Change: D41G

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

noncoding transcript
Transcript: ENSMUST00000146974

Predicted Effect

probably damaging
Transcript: ENSMUST00000210254
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209335
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156647

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC024139	A	G	15: 76,005,939 (GRCm39)	W421R	probably damaging	Het
Car11	T	C	7: 45,351,909 (GRCm39)	S113P	probably benign	Het
Ccdc146	C	T	5: 21,510,267 (GRCm39)	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,722,133 (GRCm39)	T283A	probably benign	Het
Ckap5	A	G	2: 91,419,043 (GRCm39)	I1118V	probably benign	Het
Copa	C	T	1: 171,948,971 (GRCm39)	Q1199*	probably null	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cspp1	A	G	1: 10,174,530 (GRCm39)	D661G	probably damaging	Het
Dab2	A	G	15: 6,466,474 (GRCm39)	Q729R	possibly damaging	Het
Dnah9	T	C	11: 65,924,751 (GRCm39)	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,609,681 (GRCm39)	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,196,133 (GRCm39)	V42A	probably benign	Het
Evc	A	G	5: 37,467,581 (GRCm39)	V566A	probably benign	Het
Fcrl2	T	C	3: 87,164,656 (GRCm39)	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,539,364 (GRCm39)	R171G	probably damaging	Het
Galnt17	G	A	5: 131,140,661 (GRCm39)	P152L	probably damaging	Het
Gfi1	A	G	5: 107,869,297 (GRCm39)	L245P	probably damaging	Het
Heatr4	T	C	12: 84,027,237 (GRCm39)	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,589,705 (GRCm39)	N294D	probably benign	Het
Ift74	A	G	4: 94,541,265 (GRCm39)	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,232,875 (GRCm39)	V1953I	probably benign	Het
Ikzf5	T	C	7: 130,998,490 (GRCm39)	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,331,789 (GRCm39)	T259S	possibly damaging	Het
Itgae	T	A	11: 73,005,752 (GRCm39)	D305E	probably damaging	Het
Kif23	A	C	9: 61,844,758 (GRCm39)	D90E	probably benign	Het
Kprp	A	G	3: 92,731,770 (GRCm39)	F427L	unknown	Het
Lmnb1	T	A	18: 56,864,177 (GRCm39)	Y261N	probably damaging	Het
Megf8	T	C	7: 25,016,981 (GRCm39)	V17A	probably benign	Het
Mfap4	T	C	11: 61,378,057 (GRCm39)	Y190H	probably benign	Het
Mlh1	T	C	9: 111,065,085 (GRCm39)		probably null	Het
Mocos	C	A	18: 24,809,686 (GRCm39)	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,774,822 (GRCm39)	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,296,201 (GRCm39)	I197F	possibly damaging	Het
Nefm	A	G	14: 68,361,235 (GRCm39)	L343P	probably damaging	Het
Nfatc4	A	G	14: 56,070,291 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,148,655 (GRCm39)		probably null	Het
Nlrp4f	A	T	13: 65,342,157 (GRCm39)	L496*	probably null	Het
Nom1	T	C	5: 29,648,415 (GRCm39)	F654S	probably damaging	Het
Or4k2	A	T	14: 50,424,304 (GRCm39)	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,278,639 (GRCm39)	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,608,933 (GRCm39)	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pik3ca	C	T	3: 32,490,697 (GRCm39)	R115*	probably null	Het
Pik3ca	T	C	3: 32,498,034 (GRCm39)	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,244,594 (GRCm39)	E218K	possibly damaging	Het
Prex1	G	T	2: 166,443,692 (GRCm39)	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,247,866 (GRCm39)	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,366,880 (GRCm39)	N47K	probably benign	Het
Sec61a2	G	T	2: 5,878,556 (GRCm39)	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,234,715 (GRCm39)	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,076,982 (GRCm39)	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,249,113 (GRCm39)	I765F	probably damaging	Het
Snap91	A	T	9: 86,761,603 (GRCm39)	M1K	probably null	Het
Strc	T	C	2: 121,195,592 (GRCm39)	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,245,615 (GRCm39)	T207M	possibly damaging	Het
Tchp	T	C	5: 114,847,580 (GRCm39)		probably null	Het
Tln1	A	T	4: 43,539,668 (GRCm39)	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,922,594 (GRCm39)	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,723,055 (GRCm39)	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,322,178 (GRCm39)	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,445,707 (GRCm39)	S673A	possibly damaging	Het
Vta1	G	A	10: 14,581,171 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,766,756 (GRCm39)	T500A	probably benign	Het
Zfp784	T	A	7: 5,039,116 (GRCm39)	Q147H	possibly damaging	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
R3113:Spef1l	UTSW	7	139,555,878 (GRCm39)	splice site	probably benign
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'- AGGCCCTGTTTGCTACTACC -3'
(R):5'- CAATCCTTCCTGGGATCGAG -3'

Sequencing Primer
(F):5'- CTTTCCTAAGGAGCACGAGTCTG -3'
(R):5'- GTCTCCCAGCAACGGTC -3'

Posted On

2014-12-04