Mutagenetix > Incidental Mutation

Incidental Mutation 'R2367:Spag9'

246381

Institutional Source

Beutler Lab

Gene Symbol

Spag9

Ensembl Gene

ENSMUSG00000020859

Gene Name

sperm associated antigen 9

Synonyms

JLP, Mapk8ip4, 3110018C07Rik, JIP4, 4733401I23Rik, syd1, 4831406C20Rik

MMRRC Submission

040348-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R2367 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93886917-94016911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94007583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1090 (S1090N)

Ref Sequence

ENSEMBL: ENSMUSP00000075115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024979] [ENSMUST00000041956] [ENSMUST00000075695] [ENSMUST00000092777] [ENSMUST00000103168] [ENSMUST00000153076]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024979
AA Change: S1091N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: S1091N

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	253	305	1e-25	PDB
low complexity region	306	339	N/A	INTRINSIC
coiled coil region	572	606	N/A	INTRINSIC
low complexity region	735	751	N/A	INTRINSIC
SCOP:d1kb0a2	823	969	3e-5	SMART
Blast:WD40	924	964	8e-18	BLAST
low complexity region	1132	1150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041956
AA Change: S1229N

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: S1229N

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	24	179	2e-61	PFAM
Pfam:JIP_LZII	390	460	5.3e-32	PFAM
coiled coil region	710	744	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC
SCOP:d1kb0a2	961	1107	1e-5	SMART
Blast:WD40	1062	1102	1e-17	BLAST
low complexity region	1270	1288	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075695
AA Change: S1090N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: S1090N

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	253	305	1e-25	PDB
low complexity region	306	339	N/A	INTRINSIC
coiled coil region	571	605	N/A	INTRINSIC
low complexity region	734	750	N/A	INTRINSIC
SCOP:d1kb0a2	822	968	3e-5	SMART
Blast:WD40	923	963	7e-18	BLAST
low complexity region	1131	1149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092777
AA Change: S1091N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: S1091N

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	254	306	1e-25	PDB
low complexity region	307	340	N/A	INTRINSIC
coiled coil region	572	606	N/A	INTRINSIC
low complexity region	735	751	N/A	INTRINSIC
SCOP:d1kb0a2	823	969	3e-5	SMART
Blast:WD40	924	964	7e-18	BLAST
low complexity region	1132	1150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103168
AA Change: S1086N

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: S1086N

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	249	301	1e-25	PDB
low complexity region	302	335	N/A	INTRINSIC
coiled coil region	567	601	N/A	INTRINSIC
low complexity region	730	746	N/A	INTRINSIC
SCOP:d1kb0a2	818	964	3e-5	SMART
Blast:WD40	919	959	8e-18	BLAST
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153076
AA Change: S823N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: S823N

Domain	Start	End	E-Value	Type
PDB:2W83\|D	1	25	4e-8	PDB
low complexity region	26	59	N/A	INTRINSIC
coiled coil region	291	325	N/A	INTRINSIC
low complexity region	454	470	N/A	INTRINSIC
SCOP:d1kb0a2	542	688	3e-5	SMART
Blast:WD40	643	683	1e-17	BLAST
low complexity region	864	882	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Male mice homozygous for a null mutation display reduced fertility with oligoasthenozoospermia. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Gene trapped(4)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	C	16: 22,974,069 (GRCm39)	V32A	probably benign	Het
Ceacam3	T	C	7: 16,885,813 (GRCm39)		probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cfap46	C	A	7: 139,233,414 (GRCm39)	V296F	probably damaging	Het
Ctdspl2	T	C	2: 121,817,499 (GRCm39)	V182A	probably benign	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Daxx	C	T	17: 34,130,821 (GRCm39)	R279W	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Galnt13	A	T	2: 55,002,956 (GRCm39)	M552L	probably benign	Het
Gstt2	C	T	10: 75,668,524 (GRCm39)	G108S	probably benign	Het
Heatr1	T	A	13: 12,448,605 (GRCm39)	L422Q	probably damaging	Het
Kntc1	C	T	5: 123,919,255 (GRCm39)	L845F	probably damaging	Het
Krtap26-1	C	A	16: 88,444,213 (GRCm39)	R136L	probably benign	Het
Mrgprb5	C	T	7: 47,818,347 (GRCm39)	W129*	probably null	Het
Ms4a3	G	A	19: 11,607,108 (GRCm39)	P186S	probably benign	Het
Myo15a	T	A	11: 60,408,064 (GRCm39)	M3184K	probably damaging	Het
Olig2	G	A	16: 91,023,454 (GRCm39)	R56Q	possibly damaging	Het
Or8u9	T	C	2: 86,001,981 (GRCm39)	Y60C	probably damaging	Het
Pgap3	C	T	11: 98,281,985 (GRCm39)		probably null	Het
Phgdh	C	G	3: 98,221,612 (GRCm39)	G440A	probably benign	Het
Scn1a	T	C	2: 66,158,023 (GRCm39)	Q450R	probably damaging	Het
Sema4d	CGGGG	CGGGGGGG	13: 51,857,176 (GRCm39)		probably benign	Het
Sik1	C	T	17: 32,065,271 (GRCm39)	V776I	possibly damaging	Het
Slc25a39	T	A	11: 102,294,477 (GRCm39)	T316S	possibly damaging	Het
Slc38a10	C	T	11: 120,001,087 (GRCm39)	E578K	probably benign	Het
Slc44a5	T	A	3: 153,953,446 (GRCm39)	I276K	possibly damaging	Het
Smarcc2	A	G	10: 128,318,036 (GRCm39)	T610A	possibly damaging	Het
Tpr	T	C	1: 150,309,479 (GRCm39)	V277A	probably damaging	Het
Traf3ip1	T	G	1: 91,435,242 (GRCm39)	S314A	possibly damaging	Het
Tril	T	A	6: 53,796,151 (GRCm39)	D357V	probably damaging	Het
Tube1	T	C	10: 39,020,915 (GRCm39)	L267P	probably damaging	Het
Vmn1r11	A	G	6: 57,114,416 (GRCm39)	I27V	probably benign	Het

Other mutations in Spag9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Spag9	APN	11	93,988,692 (GRCm39)	missense	probably benign	0.02
IGL01776:Spag9	APN	11	94,007,553 (GRCm39)	splice site	probably benign
IGL02095:Spag9	APN	11	93,999,408 (GRCm39)	missense	probably damaging	1.00
IGL02307:Spag9	APN	11	93,992,986 (GRCm39)	critical splice donor site	probably null
IGL02417:Spag9	APN	11	94,007,567 (GRCm39)	missense	probably benign	0.27
IGL02480:Spag9	APN	11	93,999,413 (GRCm39)	nonsense	probably null
IGL02864:Spag9	APN	11	93,997,487 (GRCm39)	missense	probably damaging	1.00
IGL02976:Spag9	APN	11	93,974,779 (GRCm39)	missense	probably benign	0.30
IGL02979:Spag9	APN	11	93,988,190 (GRCm39)	missense	probably benign
IGL03349:Spag9	APN	11	93,984,335 (GRCm39)	missense	possibly damaging	0.51
dazzle	UTSW	11	93,984,450 (GRCm39)	nonsense	probably null
R0128:Spag9	UTSW	11	93,984,365 (GRCm39)	missense	probably damaging	1.00
R0418:Spag9	UTSW	11	93,982,579 (GRCm39)	splice site	probably benign
R1463:Spag9	UTSW	11	94,007,663 (GRCm39)	missense	probably damaging	1.00
R1593:Spag9	UTSW	11	93,988,059 (GRCm39)	missense	probably damaging	1.00
R1605:Spag9	UTSW	11	93,939,365 (GRCm39)	missense	probably damaging	0.99
R1649:Spag9	UTSW	11	93,999,278 (GRCm39)	splice site	probably null
R1697:Spag9	UTSW	11	93,887,391 (GRCm39)	missense	probably benign	0.00
R1952:Spag9	UTSW	11	93,988,184 (GRCm39)	missense	possibly damaging	0.77
R2011:Spag9	UTSW	11	93,983,201 (GRCm39)	nonsense	probably null
R2012:Spag9	UTSW	11	93,983,201 (GRCm39)	nonsense	probably null
R2351:Spag9	UTSW	11	93,983,726 (GRCm39)	missense	probably damaging	1.00
R3027:Spag9	UTSW	11	93,977,203 (GRCm39)	missense	probably null	1.00
R3766:Spag9	UTSW	11	93,951,109 (GRCm39)	intron	probably benign
R3777:Spag9	UTSW	11	93,989,852 (GRCm39)	critical splice acceptor site	probably null
R3937:Spag9	UTSW	11	93,935,305 (GRCm39)	missense	possibly damaging	0.92
R3937:Spag9	UTSW	11	93,935,243 (GRCm39)	missense	possibly damaging	0.94
R4417:Spag9	UTSW	11	93,951,172 (GRCm39)	intron	probably benign
R4445:Spag9	UTSW	11	93,988,079 (GRCm39)	missense	possibly damaging	0.95
R4711:Spag9	UTSW	11	94,005,177 (GRCm39)	critical splice donor site	probably null
R4799:Spag9	UTSW	11	93,939,343 (GRCm39)	missense	probably damaging	0.96
R4799:Spag9	UTSW	11	93,939,342 (GRCm39)	missense	possibly damaging	0.87
R4816:Spag9	UTSW	11	93,939,425 (GRCm39)	intron	probably benign
R4843:Spag9	UTSW	11	93,988,644 (GRCm39)	missense	probably damaging	1.00
R5020:Spag9	UTSW	11	93,988,612 (GRCm39)	missense	probably benign	0.08
R5119:Spag9	UTSW	11	94,013,548 (GRCm39)	missense	probably damaging	1.00
R5298:Spag9	UTSW	11	93,990,961 (GRCm39)	missense	probably damaging	1.00
R5304:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5305:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5395:Spag9	UTSW	11	93,982,577 (GRCm39)	splice site	probably null
R5636:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5638:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5654:Spag9	UTSW	11	93,981,538 (GRCm39)	missense	probably damaging	1.00
R5779:Spag9	UTSW	11	94,005,079 (GRCm39)	missense	probably benign	0.20
R5814:Spag9	UTSW	11	93,973,654 (GRCm39)	missense	possibly damaging	0.94
R5912:Spag9	UTSW	11	93,935,251 (GRCm39)	missense	probably damaging	0.98
R6038:Spag9	UTSW	11	94,002,918 (GRCm39)	missense	probably damaging	1.00
R6038:Spag9	UTSW	11	94,002,918 (GRCm39)	missense	probably damaging	1.00
R6269:Spag9	UTSW	11	93,935,333 (GRCm39)	missense	probably benign	0.05
R6294:Spag9	UTSW	11	93,984,311 (GRCm39)	critical splice acceptor site	probably null
R6389:Spag9	UTSW	11	93,977,137 (GRCm39)	missense	probably damaging	1.00
R6420:Spag9	UTSW	11	93,977,128 (GRCm39)	missense	probably damaging	1.00
R6460:Spag9	UTSW	11	93,959,801 (GRCm39)	missense	probably damaging	1.00
R6482:Spag9	UTSW	11	93,984,328 (GRCm39)	missense	possibly damaging	0.94
R6860:Spag9	UTSW	11	93,972,196 (GRCm39)	missense	probably benign	0.25
R7086:Spag9	UTSW	11	93,988,690 (GRCm39)	missense	probably benign
R7179:Spag9	UTSW	11	93,980,258 (GRCm39)	splice site	probably null
R7225:Spag9	UTSW	11	93,988,184 (GRCm39)	missense	probably damaging	0.98
R7351:Spag9	UTSW	11	93,983,802 (GRCm39)	missense	probably benign	0.00
R7366:Spag9	UTSW	11	93,999,347 (GRCm39)	missense	possibly damaging	0.56
R7378:Spag9	UTSW	11	94,005,177 (GRCm39)	critical splice donor site	probably null
R7401:Spag9	UTSW	11	93,988,515 (GRCm39)	missense	probably benign
R7506:Spag9	UTSW	11	93,999,290 (GRCm39)	missense	probably damaging	1.00
R7507:Spag9	UTSW	11	93,958,906 (GRCm39)	missense	probably benign	0.00
R7513:Spag9	UTSW	11	94,002,909 (GRCm39)	missense	probably damaging	1.00
R7655:Spag9	UTSW	11	93,887,389 (GRCm39)	missense	possibly damaging	0.56
R7656:Spag9	UTSW	11	93,887,389 (GRCm39)	missense	possibly damaging	0.56
R7664:Spag9	UTSW	11	93,992,986 (GRCm39)	critical splice donor site	probably null
R7665:Spag9	UTSW	11	93,904,480 (GRCm39)	missense	probably damaging	0.98
R7862:Spag9	UTSW	11	94,002,892 (GRCm39)	missense	possibly damaging	0.69
R8074:Spag9	UTSW	11	94,002,877 (GRCm39)	missense	probably damaging	1.00
R8085:Spag9	UTSW	11	93,989,870 (GRCm39)	missense	probably benign
R8469:Spag9	UTSW	11	93,982,627 (GRCm39)	missense	probably damaging	1.00
R8547:Spag9	UTSW	11	94,013,647 (GRCm39)	missense	possibly damaging	0.84
R8709:Spag9	UTSW	11	93,958,916 (GRCm39)	missense	probably benign	0.02
R8732:Spag9	UTSW	11	93,962,514 (GRCm39)	critical splice donor site	probably null
R8899:Spag9	UTSW	11	93,983,695 (GRCm39)	missense	probably damaging	1.00
R8983:Spag9	UTSW	11	93,958,815 (GRCm39)	missense	probably benign
R9043:Spag9	UTSW	11	93,951,085 (GRCm39)	missense
R9050:Spag9	UTSW	11	93,935,294 (GRCm39)	missense	probably damaging	0.97
R9502:Spag9	UTSW	11	93,959,792 (GRCm39)	missense	probably damaging	1.00
R9575:Spag9	UTSW	11	93,962,409 (GRCm39)	missense	probably damaging	0.99
R9667:Spag9	UTSW	11	93,887,119 (GRCm39)	missense	possibly damaging	0.83
R9683:Spag9	UTSW	11	93,988,568 (GRCm39)	missense	probably damaging	1.00
R9774:Spag9	UTSW	11	94,005,062 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGGTGTTCCTAGTACCTTGATGTATAC -3'
(R):5'- GAGAACGCATGCCTAAGTCATC -3'

Sequencing Primer
(F):5'- CCTCCTGAGGCCTTAGATTAAAG -3'
(R):5'- GCATGCCTAAGTCATCATCATAAGTG -3'

Posted On

2014-10-30