Mutagenetix > Incidental Mutations

Incidental Mutation 'R1518:Spef2'

167225

Institutional Source

Beutler Lab

Gene Symbol

Spef2

Ensembl Gene

ENSMUSG00000072663

Gene Name

sperm flagellar 2

Synonyms

C230086A09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9578193-9748868 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9667230 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 791 (I791F)

Ref Sequence

ENSEMBL: ENSMUSP00000124222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041840] [ENSMUST00000160236] [ENSMUST00000208854]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041840
AA Change: I791F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035762
Gene: ENSMUSG00000072663
AA Change: I791F

Domain	Start	End	E-Value	Type
Pfam:DUF1042	5	161	2.8e-59	PFAM
coiled coil region	171	203	N/A	INTRINSIC
low complexity region	247	256	N/A	INTRINSIC
coiled coil region	312	345	N/A	INTRINSIC
Pfam:ADK	600	829	5.9e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159288
AA Change: I791F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125336
Gene: ENSMUSG00000072663
AA Change: I791F

Domain	Start	End	E-Value	Type
Pfam:CH_2	5	102	3.1e-25	PFAM
low complexity region	106	115	N/A	INTRINSIC
low complexity region	137	148	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC
coiled coil region	171	203	N/A	INTRINSIC
low complexity region	247	256	N/A	INTRINSIC
coiled coil region	312	345	N/A	INTRINSIC
Pfam:ADK	602	789	8.8e-11	PFAM
low complexity region	819	855	N/A	INTRINSIC
low complexity region	899	907	N/A	INTRINSIC
low complexity region	1201	1221	N/A	INTRINSIC
low complexity region	1264	1278	N/A	INTRINSIC
low complexity region	1359	1369	N/A	INTRINSIC
SCOP:d1rec__	1378	1530	3e-3	SMART
low complexity region	1605	1624	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160236
AA Change: I791F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: I791F

Domain	Start	End	E-Value	Type
Pfam:DUF1042	5	160	4.6e-59	PFAM
coiled coil region	171	203	N/A	INTRINSIC
low complexity region	247	256	N/A	INTRINSIC
coiled coil region	312	345	N/A	INTRINSIC
Pfam:ADK	600	787	3.7e-10	PFAM
low complexity region	819	855	N/A	INTRINSIC
low complexity region	899	907	N/A	INTRINSIC
low complexity region	1201	1225	N/A	INTRINSIC
low complexity region	1254	1268	N/A	INTRINSIC
low complexity region	1349	1359	N/A	INTRINSIC
SCOP:d1rec__	1368	1520	3e-3	SMART
low complexity region	1595	1614	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208854
AA Change: I791F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility due to oligospermia and abnormal spermatogenesis, hydroencephaly, sinusitis, and background-dependent lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,275,369	M493L	probably benign	Het
Abtb2	G	A	2: 103,709,284	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,342,603	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,871,469	T623A	possibly damaging	Het
Alox5	A	G	6: 116,413,780	F470S	probably damaging	Het
Angpt2	T	C	8: 18,705,839	E204G	probably benign	Het
Apip	A	G	2: 103,089,493	E138G	probably damaging	Het
Apob	C	T	12: 7,989,207	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 73,545,123		probably benign	Het
Atxn7l3	A	T	11: 102,294,514	D56E	probably benign	Het
Cacna1s	C	T	1: 136,098,551	A1092V	probably damaging	Het
Calr3	A	G	8: 72,427,200	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,926,051	D55V	probably benign	Het
Chid1	A	C	7: 141,528,471	V145G	probably damaging	Het
Chst15	T	C	7: 132,270,126	N142S	probably damaging	Het
Cnot4	C	T	6: 35,051,454	R409Q	probably damaging	Het
Cope	T	G	8: 70,312,761	I287S	possibly damaging	Het
Cpd	A	T	11: 76,840,386		probably null	Het
Cux1	G	T	5: 136,308,279	T785K	probably benign	Het
Dthd1	T	C	5: 62,822,040	S348P	probably damaging	Het
Eno3	G	T	11: 70,661,077	E64*	probably null	Het
Entpd1	T	A	19: 40,725,063	Y184*	probably null	Het
Erv3	A	T	2: 131,856,163	M92K	probably benign	Het
Flg2	T	A	3: 93,203,138	H824Q	unknown	Het
Fndc9	G	A	11: 46,238,103	G150S	probably benign	Het
Gdap1	G	A	1: 17,146,945	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,589,663	L394F	probably damaging	Het
Ift88	A	G	14: 57,430,628	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,333,826	I437L	probably benign	Het
Kras	T	A	6: 145,232,251	E98D	probably benign	Het
Lcorl	C	A	5: 45,734,201	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,630,576	I516V	probably benign	Het
Lrrc51	T	C	7: 101,915,596	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,947,492	A159T	probably damaging	Het
Magel2	G	A	7: 62,380,440	V1031I	unknown	Het
Man1c1	A	T	4: 134,580,789	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,335,852	A135S	possibly damaging	Het
Muc4	T	C	16: 32,750,349	S76P	possibly damaging	Het
Nin	T	G	12: 70,014,773	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,321,843	I585T	probably benign	Het
Npy1r	C	T	8: 66,704,195	A89V	probably benign	Het
Olfr1136	A	T	2: 87,693,528	M118K	probably damaging	Het
Olfr1220	G	A	2: 89,097,600	A109V	probably benign	Het
Olfr608	T	A	7: 103,470,042	M1K	probably null	Het
Olfr665	T	A	7: 104,881,308	Y200*	probably null	Het
Olfr743	T	C	14: 50,534,165	V251A	probably damaging	Het
Parp14	T	G	16: 35,856,638	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,548,121	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,508,294	Y104*	probably null	Het
Pgm2l1	A	G	7: 100,261,725	K292R	probably benign	Het
Plec	T	C	15: 76,188,201	E728G	probably damaging	Het
Plppr4	T	C	3: 117,335,503	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,247,895	N23K	possibly damaging	Het
Ppp5c	A	T	7: 17,009,936	M191K	probably damaging	Het
Prkca	T	C	11: 107,978,316	D57G	probably damaging	Het
Prkcb	A	G	7: 122,544,631		probably null	Het
Prl6a1	C	A	13: 27,318,927	Q169K	possibly damaging	Het
Prl6a1	A	T	13: 27,318,928	Q169L	probably null	Het
Psmd14	G	A	2: 61,760,991	R46H	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,247,582	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,140,280		probably benign	Het
Rbm25	A	T	12: 83,668,445	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,817,315	I35V	probably benign	Het
Sestd1	A	G	2: 77,241,632	Y49H	probably damaging	Het
Setd2	T	A	9: 110,602,238	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,671,874	C486*	probably null	Het
Sptb	T	C	12: 76,604,024	T1726A	possibly damaging	Het
St5	A	G	7: 109,557,355	S63P	probably damaging	Het
Stk38l	T	A	6: 146,771,631	M296K	probably benign	Het
Taf5	T	C	19: 47,081,846	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,266,492	T316K	probably damaging	Het
Trpm2	A	G	10: 77,943,005	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,378,868	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,698,662	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,662,353	H399R	probably damaging	Het
Zfp984	A	T	4: 147,755,545	M283K	probably benign	Het

Other mutations in Spef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Spef2	APN	15	9740535	missense	probably damaging	1.00
IGL00886:Spef2	APN	15	9663095	missense	probably damaging	1.00
IGL01409:Spef2	APN	15	9716413	missense	probably damaging	1.00
IGL01413:Spef2	APN	15	9676290	missense	probably benign	0.16
IGL01474:Spef2	APN	15	9663158	missense	probably benign	0.00
IGL01603:Spef2	APN	15	9704380	missense	probably damaging	0.99
IGL02320:Spef2	APN	15	9717576	missense	probably damaging	0.99
IGL02570:Spef2	APN	15	9717498	nonsense	probably null
IGL02605:Spef2	APN	15	9725152	missense	probably damaging	0.99
IGL02890:Spef2	APN	15	9748767	start codon destroyed	probably null	1.00
IGL02904:Spef2	APN	15	9679346	missense	probably damaging	1.00
IGL02942:Spef2	APN	15	9668874	missense	possibly damaging	0.71
IGL02953:Spef2	APN	15	9713243	missense	possibly damaging	0.82
IGL02965:Spef2	APN	15	9725106	splice site	probably benign
IGL03263:Spef2	APN	15	9667219	missense	possibly damaging	0.72
IGL03302:Spef2	APN	15	9676380	missense	probably benign	0.01
R0101:Spef2	UTSW	15	9713108	missense	probably damaging	1.00
R0101:Spef2	UTSW	15	9713108	missense	probably damaging	1.00
R0183:Spef2	UTSW	15	9716359	missense	possibly damaging	0.70
R0386:Spef2	UTSW	15	9584062	missense	probably damaging	1.00
R0511:Spef2	UTSW	15	9583984	critical splice donor site	probably null
R0617:Spef2	UTSW	15	9592758	missense	probably damaging	1.00
R0655:Spef2	UTSW	15	9626131	missense	possibly damaging	0.96
R0829:Spef2	UTSW	15	9687813	missense	probably benign	0.10
R0908:Spef2	UTSW	15	9614195	splice site	probably null
R0939:Spef2	UTSW	15	9704550	splice site	probably null
R0973:Spef2	UTSW	15	9716396	missense	probably damaging	1.00
R1371:Spef2	UTSW	15	9725108	splice site	probably benign
R1392:Spef2	UTSW	15	9647263	missense	probably benign	0.15
R1392:Spef2	UTSW	15	9647263	missense	probably benign	0.15
R1428:Spef2	UTSW	15	9596707	unclassified	probably benign
R1585:Spef2	UTSW	15	9596574	missense	probably damaging	1.00
R1654:Spef2	UTSW	15	9634652	missense	probably damaging	0.99
R1723:Spef2	UTSW	15	9614209	missense	probably damaging	1.00
R1757:Spef2	UTSW	15	9717482	missense	probably damaging	1.00
R1812:Spef2	UTSW	15	9679349	missense	probably damaging	1.00
R1817:Spef2	UTSW	15	9584108	missense	probably damaging	0.96
R1818:Spef2	UTSW	15	9584108	missense	probably damaging	0.96
R1873:Spef2	UTSW	15	9584108	missense	probably damaging	0.96
R1875:Spef2	UTSW	15	9584108	missense	probably damaging	0.96
R1875:Spef2	UTSW	15	9597401	missense	possibly damaging	0.78
R1897:Spef2	UTSW	15	9729654	nonsense	probably null
R1901:Spef2	UTSW	15	9607377	missense	probably damaging	1.00
R1902:Spef2	UTSW	15	9607377	missense	probably damaging	1.00
R1943:Spef2	UTSW	15	9663194	missense	possibly damaging	0.76
R1968:Spef2	UTSW	15	9609516	missense	probably damaging	1.00
R1973:Spef2	UTSW	15	9663066	makesense	probably null
R1998:Spef2	UTSW	15	9668903	critical splice acceptor site	probably null
R1999:Spef2	UTSW	15	9668903	critical splice acceptor site	probably null
R2008:Spef2	UTSW	15	9713185	missense	possibly damaging	0.95
R2111:Spef2	UTSW	15	9589573	missense	probably damaging	1.00
R2127:Spef2	UTSW	15	9729661	missense	possibly damaging	0.53
R2405:Spef2	UTSW	15	9626034	nonsense	probably null
R2517:Spef2	UTSW	15	9725197	missense	possibly damaging	0.93
R2889:Spef2	UTSW	15	9630613	missense	probably damaging	0.99
R2988:Spef2	UTSW	15	9682623	missense	probably benign	0.43
R3792:Spef2	UTSW	15	9704536	missense	probably damaging	1.00
R4154:Spef2	UTSW	15	9626021	missense	probably benign	0.13
R4159:Spef2	UTSW	15	9676321	missense	probably damaging	1.00
R4199:Spef2	UTSW	15	9667280	missense	probably damaging	1.00
R4320:Spef2	UTSW	15	9679343	missense	possibly damaging	0.93
R4321:Spef2	UTSW	15	9679343	missense	possibly damaging	0.93
R4568:Spef2	UTSW	15	9647217	missense	probably damaging	1.00
R4625:Spef2	UTSW	15	9647438	missense	probably damaging	1.00
R4669:Spef2	UTSW	15	9676373	missense	probably benign	0.42
R4684:Spef2	UTSW	15	9647490	missense	probably benign	0.44
R4761:Spef2	UTSW	15	9652954	missense	probably damaging	1.00
R4839:Spef2	UTSW	15	9713178	nonsense	probably null
R5004:Spef2	UTSW	15	9578327	missense	probably benign	0.02
R5157:Spef2	UTSW	15	9668791	nonsense	probably null
R5230:Spef2	UTSW	15	9667230	missense	possibly damaging	0.62
R5315:Spef2	UTSW	15	9596691	missense	probably damaging	0.98
R5400:Spef2	UTSW	15	9614281	missense	probably damaging	1.00
R5591:Spef2	UTSW	15	9583836	missense	probably benign	0.02
R5599:Spef2	UTSW	15	9729703	missense	possibly damaging	0.53
R5605:Spef2	UTSW	15	9609520	missense	probably damaging	0.96
R5787:Spef2	UTSW	15	9748726	missense	possibly damaging	0.91
R5939:Spef2	UTSW	15	9614215	missense	probably benign	0.16
R6177:Spef2	UTSW	15	9727532	missense	possibly damaging	0.89
R6641:Spef2	UTSW	15	9625973	missense	probably damaging	1.00
R6665:Spef2	UTSW	15	9600518	critical splice donor site	probably null
R6944:Spef2	UTSW	15	9592749	missense	probably damaging	1.00
R6956:Spef2	UTSW	15	9684935	missense	probably damaging	1.00
R6968:Spef2	UTSW	15	9597340	missense	probably benign	0.02
R7089:Spef2	UTSW	15	9725171	missense	probably damaging	1.00
R7117:Spef2	UTSW	15	9729838	missense	probably damaging	1.00
R7161:Spef2	UTSW	15	9717603	missense	probably benign	0.29
R7223:Spef2	UTSW	15	9601640	missense	unknown
R7263:Spef2	UTSW	15	9653012	synonymous	probably null
R7270:Spef2	UTSW	15	9599980	critical splice donor site	probably null
R7303:Spef2	UTSW	15	9647490	missense	possibly damaging	0.92
R7369:Spef2	UTSW	15	9584207	missense	probably benign	0.02
R7464:Spef2	UTSW	15	9740585	missense	probably benign	0.23
R7498:Spef2	UTSW	15	9727539	missense	probably benign
R7587:Spef2	UTSW	15	9713219	missense	probably damaging	1.00
R7748:Spef2	UTSW	15	9652945	missense	probably damaging	0.98
R7772:Spef2	UTSW	15	9704481	missense	probably damaging	0.99
X0025:Spef2	UTSW	15	9596622	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-04-13