Mutagenetix > Incidental Mutation

Incidental Mutation 'R8404:Spag7'

652322

Institutional Source

Beutler Lab

Gene Symbol

Spag7

Ensembl Gene

ENSMUSG00000018287

Gene Name

sperm associated antigen 7

Synonyms

FSA-1, Fsa1l

MMRRC Submission

067764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70554597-70560242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70560059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 17 (S17G)

Ref Sequence

ENSEMBL: ENSMUSP00000018431 (fasta)

Gene Model

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

AlphaFold

Q7TNE3

Predicted Effect

probably benign
Transcript: ENSMUST00000018431
AA Change: S17G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287
AA Change: S17G

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: 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: 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

possibly damaging
Transcript: ENSMUST00000129434
AA Change: S17G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287
AA Change: S17G

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,145 (GRCm39)	L599F	probably damaging	Het
Accs	T	C	2: 93,668,460 (GRCm39)	Y337C	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Apcdd1	A	T	18: 63,066,986 (GRCm39)	R33S	possibly damaging	Het
Brsk1	T	C	7: 4,709,695 (GRCm39)	S441P	probably damaging	Het
Crlf2	T	C	5: 109,704,917 (GRCm39)	D98G	probably benign	Het
Dnah10	A	G	5: 124,850,606 (GRCm39)	D1693G	probably damaging	Het
Gfm2	T	C	13: 97,299,485 (GRCm39)	I402T	probably benign	Het
Gm6899	C	G	11: 26,543,630 (GRCm39)	R66G	unknown	Het
Hira	T	G	16: 18,770,912 (GRCm39)	S850A	possibly damaging	Het
Krt10	C	T	11: 99,278,359 (GRCm39)	E267K	probably damaging	Het
Lama5	T	C	2: 179,837,015 (GRCm39)	N1074S	probably damaging	Het
Lrp2	C	T	2: 69,344,585 (GRCm39)	W844*	probably null	Het
Maml3	T	C	3: 51,598,077 (GRCm39)	Y869C	probably damaging	Het
Nap1l1	T	A	10: 111,317,162 (GRCm39)	M1K	probably null	Het
Nbeal2	C	T	9: 110,463,457 (GRCm39)	S1258N	possibly damaging	Het
Or51f5	T	A	7: 102,424,134 (GRCm39)	Y134*	probably null	Het
Pam	T	C	1: 97,823,358 (GRCm39)	Q271R	probably damaging	Het
Pced1a	T	C	2: 130,265,577 (GRCm39)		probably benign	Het
Pdcd11	T	C	19: 47,093,231 (GRCm39)	V503A	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pinx1	T	A	14: 64,157,063 (GRCm39)	V330D	unknown	Het
Prdm2	T	C	4: 142,861,584 (GRCm39)	I569V	probably damaging	Het
Prickle2	T	C	6: 92,397,302 (GRCm39)	D197G	probably damaging	Het
Prmt8	C	T	6: 127,666,825 (GRCm39)	C383Y	possibly damaging	Het
Prss42	T	C	9: 110,629,984 (GRCm39)	L246P	probably damaging	Het
Ptpra	C	A	2: 130,391,679 (GRCm39)	D732E	probably damaging	Het
Rpp30	T	C	19: 36,066,603 (GRCm39)	L112P	probably damaging	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Slc22a28	A	T	19: 8,108,793 (GRCm39)	C116*	probably null	Het
Slc45a2	T	C	15: 11,027,958 (GRCm39)	I509T	possibly damaging	Het
Trim62	A	G	4: 128,803,233 (GRCm39)	I428V	probably benign	Het
Urb2	A	G	8: 124,751,942 (GRCm39)	T92A	probably damaging	Het
Zan	A	T	5: 137,396,594 (GRCm39)	C4321S	unknown	Het
Zbtb32	G	A	7: 30,291,035 (GRCm39)	P87S	possibly damaging	Het
Zer1	C	T	2: 29,995,035 (GRCm39)		probably null	Het
Zfat	T	C	15: 67,976,916 (GRCm39)	T1078A	probably benign	Het

Other mutations in Spag7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01764:Spag7	APN	11	70,554,933 (GRCm39)	unclassified	probably benign
life_savers	UTSW	11	70,555,688 (GRCm39)	missense	probably damaging	1.00
R0371:Spag7	UTSW	11	70,555,622 (GRCm39)	missense	probably damaging	1.00
R0376:Spag7	UTSW	11	70,560,016 (GRCm39)	unclassified	probably benign
R0973:Spag7	UTSW	11	70,560,008 (GRCm39)	unclassified	probably benign
R1622:Spag7	UTSW	11	70,555,688 (GRCm39)	missense	probably damaging	1.00
R1955:Spag7	UTSW	11	70,555,844 (GRCm39)	missense	probably benign	0.00
R4025:Spag7	UTSW	11	70,555,300 (GRCm39)	missense	probably damaging	1.00
R4385:Spag7	UTSW	11	70,560,029 (GRCm39)	missense	probably damaging	1.00
R4409:Spag7	UTSW	11	70,555,688 (GRCm39)	missense	probably damaging	1.00
R4410:Spag7	UTSW	11	70,555,688 (GRCm39)	missense	probably damaging	1.00
R4561:Spag7	UTSW	11	70,555,816 (GRCm39)	missense	probably damaging	1.00
R5493:Spag7	UTSW	11	70,560,059 (GRCm39)	missense	probably null	1.00
R6366:Spag7	UTSW	11	70,555,418 (GRCm39)	missense	possibly damaging	0.71
R7283:Spag7	UTSW	11	70,556,139 (GRCm39)	missense	probably benign	0.00
R7653:Spag7	UTSW	11	70,555,691 (GRCm39)	missense	probably damaging	1.00
R8502:Spag7	UTSW	11	70,560,059 (GRCm39)	missense	probably benign	0.15
R9628:Spag7	UTSW	11	70,555,186 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCCTTTTAGGGACTCTGAGG -3'
(R):5'- AAACGTCTCTGCACCAGCTAG -3'

Sequencing Primer
(F):5'- TGAGGGTCTCAGAAGTGGCC -3'
(R):5'- AAGTCGCCGGCCTCATCTC -3'

Posted On

2020-10-20