Mutagenetix > Incidental Mutation

Incidental Mutation 'R6314:Spef1l'

509939

Institutional Source

Beutler Lab

Gene Symbol

Spef1l

Ensembl Gene

ENSMUSG00000073795

Gene Name

sperm flagellar 1 like

Synonyms

LOC381933, 6430531B16Rik

MMRRC Submission

044471-MU

Accession Numbers

Essential gene?

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

Stock #

R6314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139552216-139558668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 139556402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 195 (L195R)

Ref Sequence

ENSEMBL: ENSMUSP00000148257 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000097970
AA Change: L195R

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795
AA Change: L195R

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
AA Change: L195R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795
AA Change: L195R

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

possibly damaging
Transcript: ENSMUST00000209335
AA Change: L195R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000210254
AA Change: L195R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146974

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	C	5: 146,441,702 (GRCm39)	E283A	possibly damaging	Het
Aadacl2	A	T	3: 59,924,824 (GRCm39)	R130S	probably damaging	Het
Adam22	A	T	5: 8,177,365 (GRCm39)	C581*	probably null	Het
Adss2	T	A	1: 177,595,334 (GRCm39)	Y402F	probably damaging	Het
Agfg1	A	T	1: 82,836,155 (GRCm39)	Q13H	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Armc8	A	G	9: 99,417,937 (GRCm39)	S74P	probably benign	Het
Atn1	A	T	6: 124,724,013 (GRCm39)		probably benign	Het
Ddx5	T	C	11: 106,679,347 (GRCm39)		probably benign	Het
Depdc1a	T	A	3: 159,204,051 (GRCm39)	H33Q	probably damaging	Het
Dnmt3l	A	T	10: 77,895,521 (GRCm39)	Y58F	probably benign	Het
Efemp1	C	T	11: 28,864,603 (GRCm39)	T219I	probably benign	Het
Enpp2	T	C	15: 54,729,366 (GRCm39)	N436D	probably damaging	Het
Epb41l4a	A	G	18: 34,007,208 (GRCm39)	V261A	probably damaging	Het
Erap1	A	T	13: 74,822,894 (GRCm39)	K802N	probably damaging	Het
Fads2b	T	C	2: 85,332,520 (GRCm39)	N168S	probably benign	Het
Fcrl6	T	A	1: 172,426,186 (GRCm39)		probably null	Het
Fv1	A	T	4: 147,954,156 (GRCm39)		probably null	Het
Gdpd4	T	A	7: 97,623,160 (GRCm39)	M257K	probably damaging	Het
Gorab	T	C	1: 163,224,658 (GRCm39)	S48G	probably damaging	Het
Gxylt2	A	T	6: 100,775,164 (GRCm39)	H361L	probably damaging	Het
Hk1	A	G	10: 62,128,223 (GRCm39)	Y300H	possibly damaging	Het
Hk3	T	C	13: 55,161,393 (GRCm39)	R156G	probably benign	Het
Hook3	T	A	8: 26,578,136 (GRCm39)	M118L	probably benign	Het
Lmnb2	G	A	10: 80,745,804 (GRCm39)	R92C	probably damaging	Het
Lsr	A	G	7: 30,658,024 (GRCm39)	L380P	probably damaging	Het
Mettl16	A	T	11: 74,686,832 (GRCm39)	R204*	probably null	Het
Or5h18	A	T	16: 58,847,820 (GRCm39)	I150K	probably benign	Het
Or7a37	A	G	10: 78,806,179 (GRCm39)	H232R	probably benign	Het
Or7e173	C	A	9: 19,938,958 (GRCm39)	S92I	probably damaging	Het
Orc3	C	A	4: 34,579,797 (GRCm39)	G494C	possibly damaging	Het
Pcare	T	G	17: 72,059,452 (GRCm39)	Q75P	probably benign	Het
Pip5k1a	G	T	3: 94,975,432 (GRCm39)	T346K	probably damaging	Het
Pitx1	A	T	13: 55,974,166 (GRCm39)	S222T	possibly damaging	Het
Pm20d1	T	C	1: 131,743,754 (GRCm39)	V473A	possibly damaging	Het
Pnpla6	C	T	8: 3,571,572 (GRCm39)	L168F	probably benign	Het
Pramel13	T	C	4: 144,121,157 (GRCm39)	D289G	probably damaging	Het
Reln	C	A	5: 22,357,482 (GRCm39)	E195*	probably null	Het
S100a7l2	A	T	3: 90,995,683 (GRCm39)	V73E	possibly damaging	Het
Sec24b	A	T	3: 129,800,894 (GRCm39)		probably null	Het
Selenbp1	A	G	3: 94,844,576 (GRCm39)	N78D	probably damaging	Het
Serpina1d	T	A	12: 103,730,959 (GRCm39)	T340S	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Snap29	T	C	16: 17,237,183 (GRCm39)	M98T	probably benign	Het
Son	G	T	16: 91,457,298 (GRCm39)		probably benign	Het
Tgfbi	A	T	13: 56,773,976 (GRCm39)	T252S	probably benign	Het
Thsd7a	T	C	6: 12,554,996 (GRCm39)	N296S	possibly damaging	Het
Tmem225	C	G	9: 40,062,016 (GRCm39)	T210S	probably benign	Het
Tmem245	A	T	4: 56,888,592 (GRCm39)	V778D	possibly damaging	Het
Tor4a	T	C	2: 25,084,794 (GRCm39)	R370G	possibly damaging	Het
Tubgcp3	T	C	8: 12,698,625 (GRCm39)	H442R	probably benign	Het
Vmn1r20	A	T	6: 57,409,042 (GRCm39)	M123L	probably benign	Het
Zfp622	T	C	15: 25,987,067 (GRCm39)	V273A	probably benign	Het
Zhx1	C	T	15: 57,917,398 (GRCm39)	V283I	probably benign	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
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
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'- CTTCAGGGACCTTTGCATAGC -3'
(R):5'- CTTTGCAGGATCCAAGACACTC -3'

Sequencing Primer
(F):5'- GGACCTTTGCATAGCTCTGGAAAC -3'
(R):5'- ATCCAAGACACTCTGCTGTGGATG -3'

Posted On

2018-04-02