Mutagenetix > Incidental Mutations

Incidental Mutation 'R1991:Specc1'

225195

Institutional Source

Beutler Lab

Gene Symbol

Specc1

Ensembl Gene

ENSMUSG00000042331

Gene Name

sperm antigen with calponin homology and coiled-coil domains 1

Synonyms

Cytsb

MMRRC Submission

040002-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61956763-62223013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62029294 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 7 (P7T)

Ref Sequence

ENSEMBL: ENSMUSP00000144161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049836] [ENSMUST00000108709] [ENSMUST00000201364] [ENSMUST00000201624] [ENSMUST00000201671] [ENSMUST00000202178] [ENSMUST00000202389] [ENSMUST00000202905]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049836
AA Change: P7T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108709
AA Change: P7T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC
low complexity region	885	896	N/A	INTRINSIC
low complexity region	912	924	N/A	INTRINSIC
CH	963	1061	2.69e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136971

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201364
AA Change: P7T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC
low complexity region	876	887	N/A	INTRINSIC
low complexity region	903	915	N/A	INTRINSIC
CH	954	1052	2.69e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201624
AA Change: P7T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201671
AA Change: P7T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201866

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202178
AA Change: P7T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202389
AA Change: P7T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC
low complexity region	885	896	N/A	INTRINSIC
low complexity region	912	924	N/A	INTRINSIC
CH	963	1061	2.69e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202869

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202905
AA Change: P7T

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: P7T

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC
coiled coil region	159	196	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	311	316	N/A	INTRINSIC
coiled coil region	362	454	N/A	INTRINSIC
coiled coil region	479	520	N/A	INTRINSIC
coiled coil region	575	773	N/A	INTRINSIC
low complexity region	885	896	N/A	INTRINSIC
low complexity region	912	924	N/A	INTRINSIC
CH	963	1061	2.69e-16	SMART

Meta Mutation Damage Score

0.0915

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,065,658	R203*	probably null	Het
Abcc2	A	T	19: 43,807,142	I446F	probably damaging	Het
Afap1l2	A	T	19: 57,002,267	I18N	possibly damaging	Het
Aida	A	T	1: 183,313,692	E107D	probably benign	Het
Amer2	A	G	14: 60,379,820	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,187,328	S48P	probably benign	Het
Ano5	A	G	7: 51,537,813	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,483,816	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,366,959	N466D	probably damaging	Het
Armc3	T	C	2: 19,293,142	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,679,257	E523G	probably benign	Het
B3galt5	A	T	16: 96,316,025	K286M	probably damaging	Het
Bag3	C	T	7: 128,545,683	H341Y	probably benign	Het
Blm	G	T	7: 80,505,949		probably null	Het
Cacna1b	G	A	2: 24,732,306	P222L	probably damaging	Het
Cap2	T	A	13: 46,637,881	Y175N	possibly damaging	Het
Cd81	G	T	7: 143,067,201	G206*	probably null	Het
Cep290	T	A	10: 100,531,184	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,659,529	C222*	probably null	Het
Col14a1	A	T	15: 55,449,940	D1320V	unknown	Het
Col18a1	T	C	10: 77,081,154	I114V	unknown	Het
Cped1	A	G	6: 22,233,927	T847A	probably damaging	Het
Cpne7	A	G	8: 123,127,437	K288E	possibly damaging	Het
Cr2	G	A	1: 195,154,150	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,571,964	K434M	probably damaging	Het
Dpp10	A	T	1: 123,905,106	V48E	probably null	Het
Dsg2	A	G	18: 20,601,473	K836R	probably damaging	Het
Dst	A	G	1: 34,190,258	T1986A	probably benign	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,530,256	D570G	probably benign	Het
Efhc1	T	A	1: 20,989,560	C611*	probably null	Het
Epop	T	C	11: 97,628,654	T210A	probably benign	Het
Erc2	A	G	14: 28,011,636	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,771,646	N101I	probably benign	Het
Fhad1	T	C	4: 141,982,162	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,583,656	D262G	probably damaging	Het
Gm9573	A	T	17: 35,618,708	S1529T	probably benign	Het
Gorab	A	G	1: 163,397,056	S59P	probably damaging	Het
Gpr161	G	T	1: 165,306,563	M131I	probably damaging	Het
Gpr22	T	A	12: 31,709,203	M270L	probably benign	Het
Grin3b	C	A	10: 79,970,912	Q5K	probably benign	Het
Grin3b	C	T	10: 79,974,646	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,801,899	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,828,237	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,334,304	I155V	probably benign	Het
Hoga1	A	C	19: 42,060,020		probably null	Het
Hs3st5	A	G	10: 36,832,886	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,255,811	A481S	probably benign	Het
Ints2	T	A	11: 86,248,934	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,975,738	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,866,732	V157D	probably damaging	Het
Klk1b26	A	T	7: 44,016,900	T256S	probably damaging	Het
Krt81	T	C	15: 101,462,554	Q184R	probably benign	Het
Lce1k	A	T	3: 92,806,818	C20S	unknown	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lin54	A	G	5: 100,485,801		probably null	Het
Lrrc37a	T	C	11: 103,500,261	E1446G	probably benign	Het
Macf1	A	G	4: 123,456,695	S3792P	probably damaging	Het
Manba	T	A	3: 135,551,191	D538E	probably benign	Het
Mcc	C	A	18: 44,491,315	E213*	probably null	Het
Mfap4	T	C	11: 61,485,807		probably null	Het
Nebl	T	A	2: 17,452,510	I80F	probably damaging	Het
Nek4	A	G	14: 30,956,953	I145V	probably damaging	Het
Nlrp14	T	C	7: 107,196,200	V230A	probably benign	Het
Nxf3	G	A	X: 136,075,834	P380S	possibly damaging	Het
Olfr1451	T	C	19: 12,999,502	V172A	possibly damaging	Het
Olfr403	T	C	11: 74,196,163	V220A	probably damaging	Het
Olfr421-ps1	C	T	1: 174,152,121	H202Y	probably damaging	Het
Olfr490	C	A	7: 108,286,359	G256*	probably null	Het
Olfr745	G	A	14: 50,642,866	C195Y	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,859	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,074,662	L1426Q	probably null	Het
Pigk	T	A	3: 152,744,494	Y212N	probably damaging	Het
Pigm	T	G	1: 172,377,261	L188R	probably damaging	Het
Plce1	T	C	19: 38,777,924	F2117S	probably damaging	Het
Plec	A	G	15: 76,173,543	F4055L	probably damaging	Het
Plk5	C	T	10: 80,363,102	S435L	possibly damaging	Het
Pms1	G	A	1: 53,282,042	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,247,912	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,633,672	D203A	probably damaging	Het
Psg17	A	G	7: 18,814,652	V398A	probably benign	Het
Pum1	T	A	4: 130,718,218	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,169,016	D108E	probably damaging	Het
Reln	A	T	5: 21,969,360	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,452,426	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,561,466	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,389,699	Y208*	probably null	Het
Serpind1	T	C	16: 17,342,944	V446A	probably benign	Het
Shc3	T	A	13: 51,442,836	M384L	probably benign	Het
Slc38a11	A	G	2: 65,330,339	F304L	probably benign	Het
Slpi	C	T	2: 164,355,543	C28Y	probably damaging	Het
Spib	T	C	7: 44,528,857	E180G	probably benign	Het
Spint5	T	C	2: 164,716,983		probably benign	Het
Ssr2	T	A	3: 88,576,867		probably benign	Het
Tbrg1	T	C	9: 37,649,419	D387G	probably benign	Het
Tex14	T	G	11: 87,549,470	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,458,016		probably benign	Het
Tlr5	T	A	1: 182,974,347	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,511,525	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,671,904	V407A	probably damaging	Het
Tnxb	A	G	17: 34,682,251	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,890,624	M606K	probably benign	Het
Trim30a	T	A	7: 104,430,230		probably benign	Het
Trim46	A	T	3: 89,237,701	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,796,284	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563	I279T	probably benign	Het
Ttn	C	T	2: 76,946,391		probably null	Het
Txnl1	T	C	18: 63,679,514	T70A	probably benign	Het
Ush2a	C	T	1: 188,578,532		probably benign	Het
Usp1	A	G	4: 98,934,294	D615G	probably benign	Het
Virma	T	A	4: 11,519,242	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,024,868	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,846,439	V448A	probably damaging	Het
Vps11	G	A	9: 44,359,227	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,467,468	T476A	possibly damaging	Het
Wdr63	G	T	3: 146,063,480	T522K	possibly damaging	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Wnt8a	A	G	18: 34,544,884	D115G	probably damaging	Het
Xndc1	T	A	7: 102,073,191	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,336,517	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,442,504	I354F	probably benign	Het
Zfr2	A	T	10: 81,242,852	D306V	possibly damaging	Het

Other mutations in Specc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Specc1	APN	11	62118009	missense	probably benign	0.02
IGL01953:Specc1	APN	11	62118296	missense	probably benign	0.40
IGL02244:Specc1	APN	11	62128368	missense	probably benign	0.41
IGL02257:Specc1	APN	11	62118417	missense	probably damaging	1.00
IGL02512:Specc1	APN	11	62118389	missense	probably damaging	1.00
IGL03147:Specc1	UTSW	11	62118282	missense	probably benign
R0039:Specc1	UTSW	11	62029369	missense	probably damaging	0.97
R0114:Specc1	UTSW	11	62146313	missense	possibly damaging	0.92
R0635:Specc1	UTSW	11	62118903	missense	probably damaging	1.00
R1514:Specc1	UTSW	11	62156532	missense	probably damaging	1.00
R1604:Specc1	UTSW	11	62043057	missense	probably damaging	1.00
R1717:Specc1	UTSW	11	62128392	missense	possibly damaging	0.88
R1719:Specc1	UTSW	11	62128392	missense	possibly damaging	0.88
R1739:Specc1	UTSW	11	62118818	nonsense	probably null
R1757:Specc1	UTSW	11	62119284	critical splice donor site	probably null
R1990:Specc1	UTSW	11	62029294	missense	possibly damaging	0.87
R2063:Specc1	UTSW	11	62118296	missense	probably benign	0.01
R2071:Specc1	UTSW	11	62117875	missense	probably damaging	0.98
R2245:Specc1	UTSW	11	62131887	missense	probably damaging	1.00
R3415:Specc1	UTSW	11	62118419	missense	probably benign	0.29
R3831:Specc1	UTSW	11	62117967	missense	probably damaging	1.00
R3890:Specc1	UTSW	11	62151913	missense	probably benign	0.00
R3891:Specc1	UTSW	11	62151913	missense	probably benign	0.00
R4367:Specc1	UTSW	11	62118530	missense	probably damaging	1.00
R4489:Specc1	UTSW	11	62151827	splice site	probably null
R4580:Specc1	UTSW	11	62219331	missense	probably damaging	1.00
R4852:Specc1	UTSW	11	62211684	missense	probably damaging	1.00
R4930:Specc1	UTSW	11	62118958	missense	possibly damaging	0.93
R5016:Specc1	UTSW	11	62118957	missense	possibly damaging	0.92
R5416:Specc1	UTSW	11	62118909	missense	probably benign	0.00
R5650:Specc1	UTSW	11	62117967	missense	probably damaging	1.00
R6158:Specc1	UTSW	11	62118124	missense	probably damaging	0.99
R6329:Specc1	UTSW	11	62156553	missense	probably damaging	1.00
R6374:Specc1	UTSW	11	62156592	missense	possibly damaging	0.93
R6395:Specc1	UTSW	11	62132338	missense	probably damaging	1.00
R6653:Specc1	UTSW	11	62146418	missense	probably damaging	0.99
R6893:Specc1	UTSW	11	62132453	missense	probably benign
R6898:Specc1	UTSW	11	62118336	missense	probably benign
R7054:Specc1	UTSW	11	62117778	missense	probably damaging	0.96
R7294:Specc1	UTSW	11	62118337	missense	probably benign	0.01
R7376:Specc1	UTSW	11	62118252	missense	probably benign	0.06
R7560:Specc1	UTSW	11	62128409	critical splice donor site	probably null
R7605:Specc1	UTSW	11	62211680	missense	possibly damaging	0.91
R7621:Specc1	UTSW	11	62128384	missense	possibly damaging	0.96
R7804:Specc1	UTSW	11	62205397	missense	probably damaging	0.99
R7900:Specc1	UTSW	11	62219361	missense	probably damaging	1.00
R8310:Specc1	UTSW	11	62132345	missense	probably damaging	1.00
R8319:Specc1	UTSW	11	62118675	missense	possibly damaging	0.77
Z1177:Specc1	UTSW	11	62118767	missense	possibly damaging	0.86
Z1177:Specc1	UTSW	11	62205423	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GTGTTCTGTACCTGCCTAAACC -3'
(R):5'- TCAGGAGCCAATGGAGTTCG -3'

Sequencing Primer
(F):5'- TAAACCCTACCACCATTCTGTG -3'
(R):5'- AGCCAATGGAGTTCGCTAATTGC -3'

Posted On

2014-08-25