Mutagenetix > Incidental Mutations

Incidental Mutation 'R4852:Specc1'

373643

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

042464-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61956763-62223013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62211684 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 952 (V952E)

Ref Sequence

ENSEMBL: ENSMUSP00000090071 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092415
AA Change: V952E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: V952E

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: V1032E

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

SMART Domains

Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: V1032E

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
AA Change: V372E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: V372E

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

possibly damaging
Transcript: ENSMUST00000201364
AA Change: V1023E

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: V1023E

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: V943E

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

SMART Domains

Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: V943E

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: V1032E

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

SMART Domains

Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: V1032E

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: V1032E

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

SMART Domains

Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: V1032E

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4921524L21Rik	C	G	18: 6,623,487	L66V	possibly damaging	Het
4921524L21Rik	T	A	18: 6,623,488	L66Q	probably damaging	Het
Abca6	A	G	11: 110,244,203	V252A	probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Acap1	C	T	11: 69,884,376	V354M	probably benign	Het
Accs	T	C	2: 93,844,260	D99G	probably damaging	Het
Adam9	T	C	8: 25,003,301	Y97C	probably damaging	Het
Akap6	T	C	12: 53,104,675	V1174A	probably damaging	Het
Aknad1	C	A	3: 108,751,740	D23E	probably damaging	Het
Ano2	T	C	6: 125,982,923	C666R	possibly damaging	Het
Atp4a	G	A	7: 30,724,268	A933T	probably benign	Het
Atxn2	T	C	5: 121,814,411	L224P	probably damaging	Het
Bin2	T	C	15: 100,645,288	E338G	probably damaging	Het
Bloc1s5	T	C	13: 38,634,984	K20E	probably damaging	Het
Bst1	A	T	5: 43,820,525	D72V	probably benign	Het
Cacna1i	T	C	15: 80,388,479	F1631L	probably damaging	Het
Capn13	GCA	G	17: 73,351,506		probably null	Het
Cfap43	A	G	19: 47,897,111	I355T	possibly damaging	Het
Chuk	A	T	19: 44,088,758	M383K	possibly damaging	Het
Cnga4	A	G	7: 105,405,730	I174V	probably benign	Het
Cpd	T	C	11: 76,785,150	K1226E	probably benign	Het
Crip2	T	C	12: 113,140,584	C5R	probably damaging	Het
Cyp3a11	T	A	5: 145,860,495	D358V	probably damaging	Het
Ebag9	T	C	15: 44,624,519	F21S	probably damaging	Het
Ercc1	A	T	7: 19,350,704	H70L	probably damaging	Het
Exoc3	G	A	13: 74,199,645	R69C	probably damaging	Het
Fgfr4	A	T	13: 55,161,156	R363S	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm7489	T	A	15: 53,886,038		probably benign	Het
Gphn	G	A	12: 78,627,210	V526M	probably damaging	Het
Gpr152	G	A	19: 4,143,791	V444I	probably benign	Het
Gss	T	C	2: 155,564,865	E330G	probably benign	Het
Hbs1l	A	G	10: 21,358,388	D556G	possibly damaging	Het
Helz2	T	C	2: 181,230,120	T2619A	probably damaging	Het
Hk3	A	G	13: 55,012,596	F304L	probably damaging	Het
Itgad	A	T	7: 128,198,530	N906Y	probably damaging	Het
Jakmip2	T	C	18: 43,577,400	E246G	probably damaging	Het
L3mbtl4	A	T	17: 68,559,753	H329L	probably damaging	Het
Mau2	A	G	8: 70,033,177		probably null	Het
Myo16	T	C	8: 10,373,474	L270P	probably damaging	Het
Naa25	T	C	5: 121,430,692	S606P	probably damaging	Het
Nags	T	A	11: 102,146,621	C179*	probably null	Het
Naip2	A	G	13: 100,161,536	M664T	probably benign	Het
Ndufv3	T	C	17: 31,528,069	I311T	probably benign	Het
Nipsnap1	G	T	11: 4,891,468	E258*	probably null	Het
Nudc	A	G	4: 133,534,349	L208P	probably damaging	Het
Olfr33	A	T	7: 102,713,543	V290E	probably damaging	Het
Olfr392	T	C	11: 73,814,248	Y278C	probably benign	Het
Oscp1	A	G	4: 126,076,859	D137G	possibly damaging	Het
Pcdhb5	C	T	18: 37,322,471	P635S	probably benign	Het
Pcdhgb2	T	A	18: 37,692,050	I698N	probably damaging	Het
Pde4b	A	G	4: 102,597,770	Y399C	probably damaging	Het
Pdf	A	T	8: 107,048,180	V140E	probably damaging	Het
Pglyrp2	T	C	17: 32,415,849	N513S	probably benign	Het
Ranbp2	T	A	10: 58,477,056	D1199E	possibly damaging	Het
Rell2	G	T	18: 37,956,568		probably null	Het
Rgl2	A	G	17: 33,937,173	H745R	probably benign	Het
Rnf121	A	G	7: 102,023,385	C264R	probably damaging	Het
Rnf181	A	G	6: 72,361,516	F3S	probably damaging	Het
Rsrc1	T	A	3: 67,355,602	D296E	probably damaging	Het
Rubcn	A	T	16: 32,843,308	D319E	probably damaging	Het
Scaf8	T	C	17: 3,178,219	S431P	unknown	Het
Sept11	T	A	5: 93,162,253	M305K	possibly damaging	Het
Serpinb12	A	G	1: 106,956,402	K293E	probably benign	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Spint2	G	A	7: 29,256,786	T158I	probably benign	Het
St8sia4	A	T	1: 95,660,898	W71R	probably damaging	Het
Tex48	C	T	4: 63,611,914	V23I	possibly damaging	Het
Tmc5	G	A	7: 118,645,339	G480D	probably benign	Het
Tmem8b	T	A	4: 43,689,713	M330K	probably damaging	Het
Tnrc18	C	T	5: 142,731,340	R2453Q	probably damaging	Het
Trank1	A	T	9: 111,391,895	N2567Y	possibly damaging	Het
Trps1	T	C	15: 50,846,309	D211G	probably damaging	Het
Ttn	T	C	2: 76,725,159	R30501G	probably damaging	Het
Ttn	T	A	2: 76,742,903	Y25882F	probably damaging	Het
Unc79	T	A	12: 103,173,466	V2495E	probably damaging	Het
Uqcr10	T	A	11: 4,702,198	H58L	possibly damaging	Het
Usp7	A	T	16: 8,756,844	C58*	probably null	Het
Vmn1r36	A	T	6: 66,716,888	M1K	probably null	Het
Wdr7	T	A	18: 63,777,949	M804K	probably damaging	Het
Zfp131	A	C	13: 119,788,858		probably null	Het
Zfp507	A	G	7: 35,794,055	V521A	probably benign	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
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'- GTCATGTGTCAGCCAATGTC -3'
(R):5'- CCCTGAGTCTAACTTGCATTCAG -3'

Sequencing Primer
(F):5'- CCCAGTGGTAGCTGTAACATG -3'
(R):5'- TAACTTGCATTCAGACCCACTGG -3'

Posted On

2016-03-01