Mutagenetix > Incidental Mutation

Incidental Mutation 'R5887:Spocd1'

456158

Institutional Source

Beutler Lab

Gene Symbol

Spocd1

Ensembl Gene

ENSMUSG00000028784

Gene Name

SPOC domain containing 1

Synonyms

OTTMUSG00000009522

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129823042-129850908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129842752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 56 (S56C)

Ref Sequence

ENSEMBL: ENSMUSP00000118383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084263] [ENSMUST00000128007]

AlphaFold

B1ASB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000084263
AA Change: S412C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: S412C

Domain	Start	End	E-Value	Type
Pfam:TFIIS_M	1	105	1.7e-24	PFAM
Blast:PAC	123	163	4e-7	BLAST
Pfam:SPOC	247	350	1e-22	PFAM
low complexity region	454	467	N/A	INTRINSIC
low complexity region	559	571	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128007
AA Change: S56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118383
Gene: ENSMUSG00000028784
AA Change: S56C

Domain	Start	End	E-Value	Type
Pfam:TFIIS_M	5	113	3.6e-28	PFAM
Blast:PAC	129	157	6e-7	BLAST

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,892,124 (GRCm39)	Q129*	probably null	Het
Acad8	A	T	9: 26,890,620 (GRCm39)		probably null	Het
AK157302	T	C	13: 21,679,579 (GRCm39)	I35T	possibly damaging	Het
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Calcrl	A	T	2: 84,200,841 (GRCm39)	W68R	probably damaging	Het
Cd200l1	T	A	16: 45,238,279 (GRCm39)	L178F	probably damaging	Het
Cd59a	A	G	2: 103,934,546 (GRCm39)	R5G	probably damaging	Het
Chl1	C	T	6: 103,694,565 (GRCm39)	A1091V	probably benign	Het
Copg1	T	C	6: 87,879,279 (GRCm39)	F442L	probably damaging	Het
Creld1	T	C	6: 113,469,860 (GRCm39)	*421Q	probably null	Het
Crocc2	T	A	1: 93,121,838 (GRCm39)	H662Q	possibly damaging	Het
Csf2ra	G	A	19: 61,215,766 (GRCm39)	A13V	possibly damaging	Het
Cul3	T	C	1: 80,254,139 (GRCm39)	T546A	possibly damaging	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Dock6	T	A	9: 21,731,690 (GRCm39)	H1173L	probably damaging	Het
Dpysl4	T	C	7: 138,676,192 (GRCm39)	I328T	possibly damaging	Het
Dspp	G	A	5: 104,323,321 (GRCm39)	G155R	probably damaging	Het
Fbxo33	A	T	12: 59,251,545 (GRCm39)	C57*	probably null	Het
Frrs1	T	A	3: 116,690,399 (GRCm39)	V14D	probably benign	Het
Gm13199	C	T	2: 5,867,113 (GRCm39)	G96S	unknown	Het
Gpr155	A	T	2: 73,174,062 (GRCm39)	C754*	probably null	Het
Gpr62	A	T	9: 106,342,814 (GRCm39)	V38E	probably damaging	Het
Kcnt2	C	A	1: 140,353,104 (GRCm39)	P271H	probably damaging	Het
Kpna3	C	T	14: 61,640,461 (GRCm39)	V34I	probably benign	Het
Lamb1	C	T	12: 31,316,863 (GRCm39)	Q71*	probably null	Het
Lipk	T	C	19: 34,016,507 (GRCm39)	I245T	possibly damaging	Het
Lrp1b	T	G	2: 40,711,719 (GRCm39)	N3281T	possibly damaging	Het
Lrp5	A	C	19: 3,654,094 (GRCm39)	I1111S	probably benign	Het
Mmrn1	T	C	6: 60,964,058 (GRCm39)	V1020A	probably benign	Het
Or4c107	G	A	2: 88,789,098 (GRCm39)	C96Y	possibly damaging	Het
Or8b48	G	A	9: 38,493,080 (GRCm39)	C169Y	probably damaging	Het
Or8g34	T	C	9: 39,372,787 (GRCm39)	L17P	probably damaging	Het
Pcdha7	A	T	18: 37,108,960 (GRCm39)	T662S	probably damaging	Het
Pcdhga6	A	G	18: 37,841,612 (GRCm39)	D444G	probably damaging	Het
Pkd2	T	G	5: 104,646,405 (GRCm39)	D737E	probably damaging	Het
Plcd4	C	T	1: 74,590,249 (GRCm39)	R161W	probably damaging	Het
Prpf8	A	G	11: 75,391,734 (GRCm39)	Y1494C	possibly damaging	Het
Rad17	A	C	13: 100,770,369 (GRCm39)		probably null	Het
Rbm17	A	T	2: 11,590,485 (GRCm39)	F390Y	probably damaging	Het
Rhod	A	T	19: 4,489,315 (GRCm39)	L22Q	probably damaging	Het
Serpina1f	T	C	12: 103,656,046 (GRCm39)	D394G	possibly damaging	Het
Serpina1f	G	A	12: 103,659,890 (GRCm39)	Q131*	probably null	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Tasor	T	A	14: 27,188,254 (GRCm39)	L900*	probably null	Het
Tbx18	T	C	9: 87,595,566 (GRCm39)	D336G	possibly damaging	Het
Tfg	A	T	16: 56,514,779 (GRCm39)	Y135*	probably null	Het
Tjp2	A	G	19: 24,073,963 (GRCm39)	L1108P	probably benign	Het
Tmem150c	C	A	5: 100,243,524 (GRCm39)	V8L	probably benign	Het
Ttn	A	T	2: 76,746,789 (GRCm39)	H4753Q	probably benign	Het
Tyw1	T	A	5: 130,354,540 (GRCm39)	I589N	probably damaging	Het
Usp40	C	T	1: 87,927,592 (GRCm39)	R139Q	probably damaging	Het
Zgrf1	A	G	3: 127,378,414 (GRCm39)	Y174C	probably damaging	Het

Other mutations in Spocd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Spocd1	APN	4	129,847,380 (GRCm39)	missense	probably damaging	0.99
IGL02332:Spocd1	APN	4	129,842,885 (GRCm39)	missense	probably damaging	1.00
IGL02796:Spocd1	APN	4	129,841,548 (GRCm39)	intron	probably benign
R0005:Spocd1	UTSW	4	129,850,571 (GRCm39)	missense	possibly damaging	0.73
R0499:Spocd1	UTSW	4	129,849,263 (GRCm39)	missense	possibly damaging	0.56
R0939:Spocd1	UTSW	4	129,842,663 (GRCm39)	missense	possibly damaging	0.93
R1128:Spocd1	UTSW	4	129,850,599 (GRCm39)	missense	possibly damaging	0.57
R5747:Spocd1	UTSW	4	129,848,738 (GRCm39)	missense	probably damaging	1.00
R5774:Spocd1	UTSW	4	129,845,579 (GRCm39)	missense	probably benign	0.04
R5872:Spocd1	UTSW	4	129,850,254 (GRCm39)	missense	probably damaging	0.99
R6185:Spocd1	UTSW	4	129,850,242 (GRCm39)	missense	probably benign	0.02
R6198:Spocd1	UTSW	4	129,849,208 (GRCm39)	missense	probably damaging	1.00
R6245:Spocd1	UTSW	4	129,850,901 (GRCm39)	splice site	probably null
R6412:Spocd1	UTSW	4	129,847,365 (GRCm39)	missense	probably benign	0.44
R6804:Spocd1	UTSW	4	129,847,423 (GRCm39)	nonsense	probably null
R6884:Spocd1	UTSW	4	129,849,197 (GRCm39)	unclassified	probably benign
R6898:Spocd1	UTSW	4	129,850,305 (GRCm39)	unclassified	probably benign
R7090:Spocd1	UTSW	4	129,847,691 (GRCm39)	missense
R7548:Spocd1	UTSW	4	129,823,602 (GRCm39)	missense
R7570:Spocd1	UTSW	4	129,823,957 (GRCm39)	missense
R7657:Spocd1	UTSW	4	129,823,535 (GRCm39)	missense
R7910:Spocd1	UTSW	4	129,823,893 (GRCm39)	missense
R8141:Spocd1	UTSW	4	129,823,497 (GRCm39)	missense
R8557:Spocd1	UTSW	4	129,842,761 (GRCm39)	missense	probably damaging	1.00
R8798:Spocd1	UTSW	4	129,823,997 (GRCm39)	critical splice donor site	probably null
R8886:Spocd1	UTSW	4	129,845,631 (GRCm39)	missense
R9463:Spocd1	UTSW	4	129,847,398 (GRCm39)	missense
R9633:Spocd1	UTSW	4	129,850,463 (GRCm39)	missense	unknown
R9730:Spocd1	UTSW	4	129,850,305 (GRCm39)	unclassified	probably benign
Z1177:Spocd1	UTSW	4	129,849,306 (GRCm39)	missense	unknown
Z1177:Spocd1	UTSW	4	129,823,770 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCATCCAAGAAAGGAGATGGCC -3'
(R):5'- ACCAGGTTGTTAGGGGTGAC -3'

Sequencing Primer
(F):5'- GCCTCCCTCTCAGAATAAGTGAGG -3'
(R):5'- ACCTTCAGTCTGTTCCTAGT -3'

Posted On

2017-02-15