Mutagenetix > Incidental Mutations

Incidental Mutation 'R7804:Specc1'

600679

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

Accession Numbers

Is this an essential gene?

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

Stock #

R7804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61956763-62223013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62205397 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 895 (T895I)

Ref Sequence

ENSEMBL: ENSMUSP00000144300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092415] [ENSMUST00000108709] [ENSMUST00000201015] [ENSMUST00000201364] [ENSMUST00000202179] [ENSMUST00000202389] [ENSMUST00000202905]

Predicted Effect

probably damaging
Transcript: ENSMUST00000092415
AA Change: T904I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: T904I

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 damaging
Transcript: ENSMUST00000108709
AA Change: T984I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: T984I

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 damaging
Transcript: ENSMUST00000201015
AA Change: T324I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: T324I

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 damaging
Transcript: ENSMUST00000201364
AA Change: T975I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: T975I

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 damaging
Transcript: ENSMUST00000202179
AA Change: T895I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: T895I

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 damaging
Transcript: ENSMUST00000202389
AA Change: T984I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: T984I

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 damaging
Transcript: ENSMUST00000202905
AA Change: T984I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: T984I

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

0.5280

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (55/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTATGTGT	GTGTGT	11: 43,587,414		probably benign	Het
Ago4	A	T	4: 126,512,630	C296S	probably benign	Het
Apbb1	A	G	7: 105,566,600	L401P	probably damaging	Het
Cacnb2	C	A	2: 14,968,037	P252T	probably benign	Het
Ctnna2	C	T	6: 77,641,374	V202I	probably benign	Het
Dapk1	A	T	13: 60,725,339	I352F	probably benign	Het
Dexi	T	C	16: 10,542,485	D69G	possibly damaging	Het
Dgcr14	T	A	16: 17,911,167	I47F	probably damaging	Het
Dlg5	T	C	14: 24,165,320	E645G	possibly damaging	Het
Dnah3	A	G	7: 119,952,618	I2826T	probably damaging	Het
Dnah3	A	G	7: 120,011,012	W1734R	probably damaging	Het
Dtna	A	G	18: 23,595,609	K287R	probably damaging	Het
Elovl5	A	G	9: 77,979,823		probably null	Het
Fam222b	C	A	11: 78,154,153	P180Q	probably benign	Het
Fat3	C	T	9: 15,990,592	V3046I	probably benign	Het
Fem1a	A	G	17: 56,258,068	D387G	probably damaging	Het
Frmd5	A	G	2: 121,591,744	Y33H	probably damaging	Het
Gucy2g	A	T	19: 55,228,152	L464H	probably benign	Het
Ints2	T	C	11: 86,212,663	E1189G	possibly damaging	Het
Itgb4	T	C	11: 116,003,684	V1355A	probably damaging	Het
Lepr	A	T	4: 101,782,586	S750C	probably damaging	Het
Lingo1	T	C	9: 56,619,514	D603G	probably benign	Het
Map4k3	A	C	17: 80,615,070	V474G	probably damaging	Het
Myl4	T	A	11: 104,584,961	V167E	probably damaging	Het
Naa25	T	C	5: 121,424,589	V478A	probably benign	Het
Neurl4	T	A	11: 69,905,874	L487H	probably benign	Het
Nkx2-9	C	T	12: 56,612,132	R99H	probably damaging	Het
Olfr1215	C	G	2: 89,001,511	R259P	unknown	Het
Olfr686	A	T	7: 105,204,160	M61K	probably damaging	Het
Olfr809	A	G	10: 129,776,222	I103V	probably benign	Het
Pcdhga9	A	G	18: 37,738,079	I320M	probably damaging	Het
Pi15	T	A	1: 17,624,913	C251*	probably null	Het
Pkhd1l1	A	T	15: 44,597,138	K4248*	probably null	Het
Prkg1	C	T	19: 30,578,632	V625I	probably benign	Het
Prkg1	G	A	19: 30,624,770	A362V	possibly damaging	Het
Prol1	C	T	5: 88,328,405	T218I	unknown	Het
Ptpro	G	A	6: 137,399,601		probably null	Het
Rev3l	T	A	10: 39,823,485	I1326K	probably benign	Het
Shank1	C	A	7: 44,312,884	R60S	unknown	Het
Slc24a2	A	G	4: 86,991,537	V648A	probably damaging	Het
Slc35d3	T	C	10: 19,849,370	T247A	probably damaging	Het
Spta1	A	G	1: 174,195,905	E626G	possibly damaging	Het
Syngr2	C	A	11: 117,812,575	S72R	possibly damaging	Het
Synj2	T	A	17: 6,019,534	L490Q	unknown	Het
Tbc1d9	T	C	8: 83,236,712	L351P	possibly damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Themis3	G	A	17: 66,555,610	T451I	probably benign	Het
Tia1	T	C	6: 86,424,382	S146P	probably benign	Het
Tpp2	T	A	1: 43,983,281	N946K	probably benign	Het
Tpr	A	T	1: 150,432,559	R1688S	probably damaging	Het
Trav12-1	A	G	14: 53,538,531	Q47R	possibly damaging	Het
Ttll9	G	A	2: 153,002,358		probably null	Het
Ttn	G	A	2: 76,707,241	T34781M	possibly damaging	Het
V1ra8	A	G	6: 90,203,316	Y167C	probably damaging	Het
Vegfb	T	C	19: 6,986,339	D84G	probably damaging	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Wdr26	A	G	1: 181,182,822	I554T	probably 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
R1991: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
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'- TGGTCATGCCTGTTACCAAAG -3'
(R):5'- ACACTGCAGTCACATCCTG -3'

Sequencing Primer
(F):5'- GGTCATGCCTGTTACCAAAGTTAAGC -3'
(R):5'- AGTCACATCCTGCCCCTGAG -3'

Posted On

2019-11-26