Mutagenetix > Incidental Mutation

Incidental Mutation 'R4410:Spag7'

327872

Institutional Source

Beutler Lab

Gene Symbol

Spag7

Ensembl Gene

ENSMUSG00000018287

Gene Name

sperm associated antigen 7

Synonyms

Fsa1l, FSA-1

MMRRC Submission

041692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70663771-70669416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70664862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 83 (D83G)

Ref Sequence

ENSEMBL: ENSMUSP00000018431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018431] [ENSMUST00000036299] [ENSMUST00000072841] [ENSMUST00000100933] [ENSMUST00000108544] [ENSMUST00000108545] [ENSMUST00000108548] [ENSMUST00000119120] [ENSMUST00000120261] [ENSMUST00000129434] [ENSMUST00000157027] [ENSMUST00000170716] [ENSMUST00000145823]

AlphaFold

Q7TNE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000018431
AA Change: D83G

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

SMART Domains

Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287
AA Change: D83G

Domain	Start	End	E-Value	Type
R3H	31	109	3.85e-21	SMART
low complexity region	130	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036299

SMART Domains

Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	155	1.07e-83	SMART
low complexity region	232	243	N/A	INTRINSIC
low complexity region	273	291	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
low complexity region	314	329	N/A	INTRINSIC
low complexity region	370	380	N/A	INTRINSIC
low complexity region	417	435	N/A	INTRINSIC
low complexity region	461	485	N/A	INTRINSIC
low complexity region	501	514	N/A	INTRINSIC
Pfam:TIG	541	621	6.2e-13	PFAM
low complexity region	660	679	N/A	INTRINSIC
Blast:ANK	717	750	7e-12	BLAST
SCOP:d1myo__	718	816	2e-15	SMART
Blast:ANK	762	792	4e-11	BLAST
low complexity region	829	839	N/A	INTRINSIC
low complexity region	844	853	N/A	INTRINSIC
low complexity region	861	882	N/A	INTRINSIC
IQ	1053	1075	2.59e2	SMART
IQ	1076	1092	2.38e2	SMART
IQ	1106	1128	5.42e0	SMART
low complexity region	1140	1157	N/A	INTRINSIC
low complexity region	1180	1190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072841

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100933

SMART Domains

Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	36	152	8.08e-88	SMART
low complexity region	229	240	N/A	INTRINSIC
low complexity region	270	288	N/A	INTRINSIC
low complexity region	291	302	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
low complexity region	414	432	N/A	INTRINSIC
low complexity region	458	482	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
Pfam:TIG	538	618	1.2e-8	PFAM
low complexity region	657	676	N/A	INTRINSIC
Blast:ANK	714	747	8e-12	BLAST
SCOP:d1myo__	715	813	2e-15	SMART
Blast:ANK	759	789	4e-11	BLAST
low complexity region	826	836	N/A	INTRINSIC
low complexity region	841	850	N/A	INTRINSIC
low complexity region	858	879	N/A	INTRINSIC
IQ	1050	1072	2.59e2	SMART
IQ	1073	1095	1.18e1	SMART
IQ	1096	1118	5.42e0	SMART
low complexity region	1130	1147	N/A	INTRINSIC
low complexity region	1170	1180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108544

SMART Domains

Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	150	8.08e-88	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	268	286	N/A	INTRINSIC
low complexity region	289	300	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	456	480	N/A	INTRINSIC
low complexity region	496	509	N/A	INTRINSIC
Pfam:TIG	536	616	1.2e-8	PFAM
low complexity region	655	674	N/A	INTRINSIC
Blast:ANK	712	745	7e-12	BLAST
SCOP:d1myo__	713	811	2e-15	SMART
Blast:ANK	757	787	4e-11	BLAST
low complexity region	824	834	N/A	INTRINSIC
low complexity region	839	848	N/A	INTRINSIC
low complexity region	856	877	N/A	INTRINSIC
IQ	1048	1070	2.59e2	SMART
IQ	1071	1087	2.38e2	SMART
IQ	1101	1123	5.42e0	SMART
low complexity region	1135	1152	N/A	INTRINSIC
low complexity region	1175	1185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108545

SMART Domains

Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	126	3.23e-55	SMART
low complexity region	203	214	N/A	INTRINSIC
low complexity region	244	262	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	285	300	N/A	INTRINSIC
low complexity region	341	351	N/A	INTRINSIC
low complexity region	388	406	N/A	INTRINSIC
low complexity region	432	456	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
Pfam:TIG	512	592	1.1e-8	PFAM
low complexity region	631	650	N/A	INTRINSIC
Blast:ANK	688	721	7e-12	BLAST
SCOP:d1myo__	689	787	2e-15	SMART
Blast:ANK	733	763	5e-13	BLAST
low complexity region	800	810	N/A	INTRINSIC
low complexity region	815	824	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC
IQ	1024	1046	2.59e2	SMART
IQ	1047	1069	1.18e1	SMART
IQ	1070	1092	5.42e0	SMART
low complexity region	1104	1121	N/A	INTRINSIC
low complexity region	1144	1154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108548

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119120

SMART Domains

Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	150	8.08e-88	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	268	286	N/A	INTRINSIC
low complexity region	289	300	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	456	480	N/A	INTRINSIC
low complexity region	496	509	N/A	INTRINSIC
Pfam:TIG	536	616	1.1e-8	PFAM
low complexity region	655	674	N/A	INTRINSIC
Blast:ANK	712	745	7e-12	BLAST
SCOP:d1myo__	713	811	2e-15	SMART
Blast:ANK	757	787	8e-13	BLAST
low complexity region	824	834	N/A	INTRINSIC
low complexity region	839	848	N/A	INTRINSIC
low complexity region	856	877	N/A	INTRINSIC
IQ	1048	1070	2.59e2	SMART
IQ	1071	1093	1.18e1	SMART
IQ	1094	1116	5.42e0	SMART
low complexity region	1128	1145	N/A	INTRINSIC
low complexity region	1168	1178	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120261

SMART Domains

Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	126	3.23e-55	SMART
low complexity region	203	214	N/A	INTRINSIC
low complexity region	244	262	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	285	300	N/A	INTRINSIC
low complexity region	341	351	N/A	INTRINSIC
low complexity region	388	406	N/A	INTRINSIC
low complexity region	432	456	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
Pfam:TIG	512	592	1e-8	PFAM
low complexity region	631	650	N/A	INTRINSIC
Blast:ANK	688	721	7e-12	BLAST
SCOP:d1myo__	689	787	2e-15	SMART
Blast:ANK	733	763	7e-13	BLAST
low complexity region	800	810	N/A	INTRINSIC
low complexity region	815	824	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC
IQ	1024	1046	2.59e2	SMART
IQ	1047	1063	2.38e2	SMART
IQ	1077	1099	5.42e0	SMART
low complexity region	1111	1128	N/A	INTRINSIC
low complexity region	1151	1161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125687

Predicted Effect

probably damaging
Transcript: ENSMUST00000129434
AA Change: D73G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287
AA Change: D73G

Domain	Start	End	E-Value	Type
R3H	22	99	3.06e-15	SMART
low complexity region	120	142	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179738

Predicted Effect

probably benign
Transcript: ENSMUST00000157027

SMART Domains

Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Pfam:Enolase_C	142	196	1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179055

Predicted Effect

probably benign
Transcript: ENSMUST00000170716

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145823

SMART Domains

Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	137	2.55e-44	SMART
low complexity region	146	165	N/A	INTRINSIC

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,725,512		probably benign	Het
Arrb1	G	T	7: 99,598,296		probably benign	Het
Cadps	A	G	14: 12,822,323	M139T	probably damaging	Het
Casr	A	G	16: 36,500,341	C482R	probably benign	Het
Cdca4	A	T	12: 112,821,879	H76Q	probably benign	Het
Ddias	A	G	7: 92,858,079	L876P	probably benign	Het
Dnah9	T	C	11: 66,085,477	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,767,819		probably benign	Het
Eme2	A	G	17: 24,893,624	S160P	probably benign	Het
Fbxw24	A	T	9: 109,608,188	D210E	probably damaging	Het
Folr2	T	C	7: 101,840,674	E129G	probably damaging	Het
Gm7682	A	T	5: 94,445,861	Q15L	probably benign	Het
Herc6	T	A	6: 57,659,679	N793K	possibly damaging	Het
Iqcg	T	G	16: 33,030,816	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,775,692		probably benign	Het
Lmod2	A	C	6: 24,604,630	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,665,082	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,452,584	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,248,998	R1050W	probably damaging	Het
Mpp6	C	T	6: 50,198,268	Q520*	probably null	Het
Muc6	T	A	7: 141,637,663	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,135,266	E4048G	probably damaging	Het
Myh3	G	C	11: 67,085,032	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284	V11A	probably benign	Het
Olfr1189	G	A	2: 88,592,421	V206I	probably benign	Het
P3h2	G	C	16: 26,105,290	R132G	possibly damaging	Het
Phgdh	A	G	3: 98,314,275	M447T	probably benign	Het
Pmfbp1	G	A	8: 109,532,063	A667T	probably benign	Het
Psmd2	T	G	16: 20,655,026	C230G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc37a3	T	A	6: 39,338,813	Y443F	probably benign	Het
Sorl1	C	A	9: 42,003,992	G1314*	probably null	Het
St7	C	T	6: 17,854,933	R267*	probably null	Het
Syne2	C	T	12: 76,094,393	S99L	probably damaging	Het
Tacc2	T	G	7: 130,742,211	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Uaca	T	G	9: 60,869,891	V518G	probably damaging	Het
Usp43	T	C	11: 67,855,890	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,147,076	V116A	probably benign	Het
Wdr3	G	A	3: 100,140,227	T844M	probably benign	Het
Wdr7	T	A	18: 63,778,249	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,742,827	I423M	possibly damaging	Het
Zmym1	A	T	4: 127,048,104	C830*	probably null	Het

Other mutations in Spag7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01764:Spag7	APN	11	70664107	unclassified	probably benign
life_savers	UTSW	11	70664862	missense	probably damaging	1.00
R0371:Spag7	UTSW	11	70664796	missense	probably damaging	1.00
R0376:Spag7	UTSW	11	70669190	unclassified	probably benign
R0973:Spag7	UTSW	11	70669182	unclassified	probably benign
R1622:Spag7	UTSW	11	70664862	missense	probably damaging	1.00
R1955:Spag7	UTSW	11	70665018	missense	probably benign	0.00
R4025:Spag7	UTSW	11	70664474	missense	probably damaging	1.00
R4385:Spag7	UTSW	11	70669203	missense	probably damaging	1.00
R4409:Spag7	UTSW	11	70664862	missense	probably damaging	1.00
R4561:Spag7	UTSW	11	70664990	missense	probably damaging	1.00
R5493:Spag7	UTSW	11	70669233	missense	probably null	1.00
R6366:Spag7	UTSW	11	70664592	missense	possibly damaging	0.71
R7283:Spag7	UTSW	11	70665313	missense	probably benign	0.00
R7653:Spag7	UTSW	11	70664865	missense	probably damaging	1.00
R8404:Spag7	UTSW	11	70669233	missense	probably benign	0.15
R8502:Spag7	UTSW	11	70669233	missense	probably benign	0.15
R9628:Spag7	UTSW	11	70664360	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTGCAAACTCCTGGAGATGAAG -3'
(R):5'- GTCTGATTTCATCCAGGACAGTG -3'

Sequencing Primer
(F):5'- CTCCTGGAGATGAAGAGAAAGGTAG -3'
(R):5'- TCCAGGACAGTGGACAGGTC -3'

Posted On

2015-07-07