Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00156:Specc1'

306546

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 #

IGL00156

Quality Score

Status

Chromosome

Chromosomal Location

61847589-62113839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62008835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 117 (W117L)

Ref Sequence

ENSEMBL: ENSMUSP00000090071 (fasta)

Gene Model

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

AlphaFold

Q5SXY1

Predicted Effect

probably benign
Transcript: ENSMUST00000049836
AA Change: W197L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: W197L

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: W117L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: W117L

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: W197L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: W197L

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: W197L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: W197L

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: W197L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: W197L

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: W197L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: W197L

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: ENSMUST00000201723
AA Change: W117L

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

SMART Domains

Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: W117L

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

probably benign
Transcript: ENSMUST00000202179
AA Change: W117L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: W117L

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: W197L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: W197L

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: ENSMUST00000202178
AA Change: W197L

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

SMART Domains

Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: W197L

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: W197L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: W197L

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: 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,856,353 (GRCm39)		probably null	Het
Adamts19	T	A	18: 59,157,537 (GRCm39)	V943E	probably damaging	Het
C530025M09Rik	C	A	2: 149,672,646 (GRCm39)		probably benign	Het
Cep192	T	G	18: 67,953,407 (GRCm39)	W475G	probably damaging	Het
Col28a1	T	C	6: 8,014,795 (GRCm39)	Y870C	probably damaging	Het
Cyp2a22	A	T	7: 26,637,163 (GRCm39)	M207K	probably benign	Het
Dpm1	A	G	2: 168,052,495 (GRCm39)	V247A	probably benign	Het
Glt1d1	T	C	5: 127,709,349 (GRCm39)	M1T	probably null	Het
Gm9507	A	T	10: 77,647,114 (GRCm39)	C188*	probably null	Het
Hectd4	T	C	5: 121,501,933 (GRCm39)	V4222A	possibly damaging	Het
Igkv3-3	T	A	6: 70,664,397 (GRCm39)	S80T	possibly damaging	Het
Lrrc49	T	C	9: 60,508,603 (GRCm39)	K520E	probably damaging	Het
Ltbp1	A	T	17: 75,692,155 (GRCm39)	Y1273F	probably damaging	Het
Lyst	T	A	13: 13,823,463 (GRCm39)	H1478Q	probably benign	Het
Mre11a	A	G	9: 14,736,504 (GRCm39)	D518G	probably benign	Het
Or1e22	T	A	11: 73,377,398 (GRCm39)	N84I	probably benign	Het
Or4a71	C	T	2: 89,358,551 (GRCm39)	D68N	probably damaging	Het
Or7e168	T	C	9: 19,719,692 (GRCm39)	I26T	probably benign	Het
Pkd1l1	T	A	11: 8,900,515 (GRCm39)	S9C	probably damaging	Het
Prrc2b	A	G	2: 32,098,731 (GRCm39)	H681R	probably damaging	Het
Rapgef1	A	G	2: 29,612,281 (GRCm39)	S644G	probably benign	Het
Sgce	T	A	6: 4,689,750 (GRCm39)	H361L	probably damaging	Het
Srrm4	A	G	5: 116,584,616 (GRCm39)	S485P	possibly damaging	Het
Traf2	G	T	2: 25,410,463 (GRCm39)	Y395*	probably null	Het
Trf	A	G	9: 103,098,156 (GRCm39)	I34T	probably benign	Het
Vdac2	T	C	14: 21,888,592 (GRCm39)	Y165H	possibly damaging	Het
Wwp1	T	C	4: 19,650,360 (GRCm39)	T269A	probably benign	Het

Other mutations in Specc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Specc1	APN	11	62,009,122 (GRCm39)	missense	probably benign	0.40
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

2015-04-16