Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01953:Specc1'

181346

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Specc1

Ensembl Gene

ENSMUSG00000042331

Gene Name

sperm antigen with calponin homology and coiled-coil domains 1

Synonyms

Cytsb, 2810012G08Rik, B230396K10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

IGL01953

Quality Score

Status

Chromosome

Chromosomal Location

61847589-62113839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62009122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 293 (S293T)

Ref Sequence

ENSEMBL: ENSMUSP00000144161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049836] [ENSMUST00000092415] [ENSMUST00000108709] [ENSMUST00000201015] [ENSMUST00000201364] [ENSMUST00000201624] [ENSMUST00000201671] [ENSMUST00000202178] [ENSMUST00000202389] [ENSMUST00000202179] [ENSMUST00000202905] [ENSMUST00000201723] [ENSMUST00000202744]

AlphaFold

Q5SXY1

Predicted Effect

probably benign
Transcript: ENSMUST00000049836
AA Change: S293T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000092415
AA Change: S213T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: S213T

Domain	Start	End	E-Value	Type
low complexity region	43	63	N/A	INTRINSIC
coiled coil region	79	116	N/A	INTRINSIC
coiled coil region	144	179	N/A	INTRINSIC
low complexity region	231	236	N/A	INTRINSIC
coiled coil region	282	374	N/A	INTRINSIC
coiled coil region	399	440	N/A	INTRINSIC
coiled coil region	495	693	N/A	INTRINSIC
low complexity region	805	816	N/A	INTRINSIC
low complexity region	832	844	N/A	INTRINSIC
CH	883	981	2.69e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108709
AA Change: S293T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000201015

SMART Domains

Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331

Domain	Start	End	E-Value	Type
coiled coil region	23	113	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
low complexity region	252	264	N/A	INTRINSIC
CH	303	401	1.4e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201364
AA Change: S293T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000201624
AA Change: S293T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000201671
AA Change: S293T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000202178
AA Change: S293T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000202389
AA Change: S293T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000202179
AA Change: S213T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: S213T

Domain	Start	End	E-Value	Type
low complexity region	43	63	N/A	INTRINSIC
coiled coil region	79	116	N/A	INTRINSIC
coiled coil region	144	179	N/A	INTRINSIC
low complexity region	231	236	N/A	INTRINSIC
coiled coil region	282	374	N/A	INTRINSIC
coiled coil region	399	440	N/A	INTRINSIC
coiled coil region	495	693	N/A	INTRINSIC
low complexity region	796	807	N/A	INTRINSIC
low complexity region	823	835	N/A	INTRINSIC
CH	874	972	2.69e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202905
AA Change: S293T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000201723
AA Change: S213T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: S213T

Domain	Start	End	E-Value	Type
low complexity region	43	63	N/A	INTRINSIC
coiled coil region	79	116	N/A	INTRINSIC
coiled coil region	144	179	N/A	INTRINSIC
low complexity region	231	236	N/A	INTRINSIC
coiled coil region	282	374	N/A	INTRINSIC
coiled coil region	399	440	N/A	INTRINSIC
coiled coil region	495	693	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201866

Predicted Effect

probably benign
Transcript: ENSMUST00000202744

SMART Domains

Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331

Domain	Start	End	E-Value	Type
coiled coil region	23	113	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	G	A	16: 4,778,408 (GRCm39)	A8V	probably damaging	Het
Atp6v0a4	A	G	6: 38,031,552 (GRCm39)	S650P	probably damaging	Het
B3glct	C	A	5: 149,669,000 (GRCm39)	D311E	probably benign	Het
Cc2d1a	G	A	8: 84,870,607 (GRCm39)	P119S	probably benign	Het
Cdcp3	T	C	7: 130,826,709 (GRCm39)	M261T	probably benign	Het
Chdh	T	C	14: 29,757,304 (GRCm39)	V409A	probably benign	Het
Cipc	T	A	12: 86,999,538 (GRCm39)	V4E	possibly damaging	Het
Dock2	G	T	11: 34,623,183 (GRCm39)	T70K	probably benign	Het
Dpf1	T	C	7: 29,013,732 (GRCm39)	V269A	probably damaging	Het
Drc7	A	T	8: 95,785,753 (GRCm39)	Y203F	probably damaging	Het
Dsg3	C	T	18: 20,658,361 (GRCm39)	T324I	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Iqcd	A	T	5: 120,738,554 (GRCm39)	N124I	probably benign	Het
Kdm7a	T	C	6: 39,123,836 (GRCm39)	N776S	probably benign	Het
Lama5	C	T	2: 179,832,497 (GRCm39)	R1684H	probably damaging	Het
Lrp12	A	T	15: 39,741,497 (GRCm39)	V406D	probably damaging	Het
Lrrc74a	T	A	12: 86,788,494 (GRCm39)	L158Q	probably damaging	Het
Mef2d	C	T	3: 88,063,813 (GRCm39)	T80I	probably damaging	Het
Megf11	T	C	9: 64,597,370 (GRCm39)	C681R	probably damaging	Het
Mex3c	A	G	18: 73,723,104 (GRCm39)	D399G	probably damaging	Het
Muc20	T	C	16: 32,614,073 (GRCm39)	T435A	probably benign	Het
Myo5b	T	C	18: 74,702,838 (GRCm39)	Y10H	possibly damaging	Het
Or12d13	T	C	17: 37,647,766 (GRCm39)	D119G	probably damaging	Het
Or4k40	A	G	2: 111,250,657 (GRCm39)	L213P	probably benign	Het
Otoa	T	A	7: 120,759,548 (GRCm39)		probably null	Het
P4ha2	T	C	11: 54,004,996 (GRCm39)	F124S	probably benign	Het
Phkg2	C	T	7: 127,181,512 (GRCm39)	P232S	probably damaging	Het
Piezo1	T	A	8: 123,217,923 (GRCm39)	Q800L	probably damaging	Het
Pign	C	A	1: 105,516,764 (GRCm39)		probably benign	Het
Pik3r5	A	G	11: 68,384,997 (GRCm39)	D634G	probably benign	Het
Ptpn9	A	G	9: 56,964,072 (GRCm39)	T402A	possibly damaging	Het
Relb	A	C	7: 19,349,482 (GRCm39)		probably null	Het
Scgb1b30	A	G	7: 33,799,302 (GRCm39)	Q78R	probably damaging	Het
Sema6a	C	T	18: 47,423,187 (GRCm39)	W273*	probably null	Het
Sestd1	A	G	2: 77,042,813 (GRCm39)	V247A	possibly damaging	Het
Sptbn2	A	G	19: 4,799,721 (GRCm39)	D2145G	probably benign	Het
Trim43b	T	A	9: 88,967,496 (GRCm39)	D380V	possibly damaging	Het
Vmn1r236	A	G	17: 21,507,473 (GRCm39)	Y197C	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,382 (GRCm39)	Y88C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r61	G	A	7: 41,949,613 (GRCm39)	V678M	probably damaging	Het
Wdfy3	A	T	5: 102,042,894 (GRCm39)	Y1937*	probably null	Het

Other mutations in Specc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Specc1	APN	11	62,008,835 (GRCm39)	missense	probably benign	0.02
IGL02244:Specc1	APN	11	62,019,194 (GRCm39)	missense	probably benign	0.41
IGL02257:Specc1	APN	11	62,009,243 (GRCm39)	missense	probably damaging	1.00
IGL02512:Specc1	APN	11	62,009,215 (GRCm39)	missense	probably damaging	1.00
IGL03147:Specc1	UTSW	11	62,009,108 (GRCm39)	missense	probably benign
R0039:Specc1	UTSW	11	61,920,195 (GRCm39)	missense	probably damaging	0.97
R0114:Specc1	UTSW	11	62,037,139 (GRCm39)	missense	possibly damaging	0.92
R0635:Specc1	UTSW	11	62,009,729 (GRCm39)	missense	probably damaging	1.00
R1514:Specc1	UTSW	11	62,047,358 (GRCm39)	missense	probably damaging	1.00
R1604:Specc1	UTSW	11	61,933,883 (GRCm39)	missense	probably damaging	1.00
R1717:Specc1	UTSW	11	62,019,218 (GRCm39)	missense	possibly damaging	0.88
R1719:Specc1	UTSW	11	62,019,218 (GRCm39)	missense	possibly damaging	0.88
R1739:Specc1	UTSW	11	62,009,644 (GRCm39)	nonsense	probably null
R1757:Specc1	UTSW	11	62,010,110 (GRCm39)	critical splice donor site	probably null
R1990:Specc1	UTSW	11	61,920,120 (GRCm39)	missense	possibly damaging	0.87
R1991:Specc1	UTSW	11	61,920,120 (GRCm39)	missense	possibly damaging	0.87
R2063:Specc1	UTSW	11	62,009,122 (GRCm39)	missense	probably benign	0.01
R2071:Specc1	UTSW	11	62,008,701 (GRCm39)	missense	probably damaging	0.98
R2245:Specc1	UTSW	11	62,022,713 (GRCm39)	missense	probably damaging	1.00
R3415:Specc1	UTSW	11	62,009,245 (GRCm39)	missense	probably benign	0.29
R3831:Specc1	UTSW	11	62,008,793 (GRCm39)	missense	probably damaging	1.00
R3890:Specc1	UTSW	11	62,042,739 (GRCm39)	missense	probably benign	0.00
R3891:Specc1	UTSW	11	62,042,739 (GRCm39)	missense	probably benign	0.00
R4367:Specc1	UTSW	11	62,009,356 (GRCm39)	missense	probably damaging	1.00
R4489:Specc1	UTSW	11	62,042,653 (GRCm39)	splice site	probably null
R4580:Specc1	UTSW	11	62,110,157 (GRCm39)	missense	probably damaging	1.00
R4852:Specc1	UTSW	11	62,102,510 (GRCm39)	missense	probably damaging	1.00
R4930:Specc1	UTSW	11	62,009,784 (GRCm39)	missense	possibly damaging	0.93
R5016:Specc1	UTSW	11	62,009,783 (GRCm39)	missense	possibly damaging	0.92
R5416:Specc1	UTSW	11	62,009,735 (GRCm39)	missense	probably benign	0.00
R5650:Specc1	UTSW	11	62,008,793 (GRCm39)	missense	probably damaging	1.00
R6158:Specc1	UTSW	11	62,008,950 (GRCm39)	missense	probably damaging	0.99
R6329:Specc1	UTSW	11	62,047,379 (GRCm39)	missense	probably damaging	1.00
R6374:Specc1	UTSW	11	62,047,418 (GRCm39)	missense	possibly damaging	0.93
R6395:Specc1	UTSW	11	62,023,164 (GRCm39)	missense	probably damaging	1.00
R6653:Specc1	UTSW	11	62,037,244 (GRCm39)	missense	probably damaging	0.99
R6893:Specc1	UTSW	11	62,023,279 (GRCm39)	missense	probably benign
R6898:Specc1	UTSW	11	62,009,162 (GRCm39)	missense	probably benign
R7054:Specc1	UTSW	11	62,008,604 (GRCm39)	missense	probably damaging	0.96
R7294:Specc1	UTSW	11	62,009,163 (GRCm39)	missense	probably benign	0.01
R7376:Specc1	UTSW	11	62,009,078 (GRCm39)	missense	probably benign	0.06
R7560:Specc1	UTSW	11	62,019,235 (GRCm39)	critical splice donor site	probably null
R7605:Specc1	UTSW	11	62,102,506 (GRCm39)	missense	possibly damaging	0.91
R7621:Specc1	UTSW	11	62,019,210 (GRCm39)	missense	possibly damaging	0.96
R7804:Specc1	UTSW	11	62,096,223 (GRCm39)	missense	probably damaging	0.99
R7900:Specc1	UTSW	11	62,110,187 (GRCm39)	missense	probably damaging	1.00
R8310:Specc1	UTSW	11	62,023,171 (GRCm39)	missense	probably damaging	1.00
R8319:Specc1	UTSW	11	62,009,501 (GRCm39)	missense	possibly damaging	0.77
R9081:Specc1	UTSW	11	62,010,051 (GRCm39)	missense	possibly damaging	0.55
R9109:Specc1	UTSW	11	62,102,464 (GRCm39)	splice site	probably null
R9361:Specc1	UTSW	11	62,037,144 (GRCm39)	missense	probably benign
Z1177:Specc1	UTSW	11	62,096,249 (GRCm39)	missense	possibly damaging	0.84
Z1177:Specc1	UTSW	11	62,009,593 (GRCm39)	missense	possibly damaging	0.86

Posted On

2014-05-07