Mutagenetix > Incidental Mutations

Incidental Mutation 'R6198:Spocd1'

503028

Institutional Source

Beutler Lab

Gene Symbol

Spocd1

Ensembl Gene

ENSMUSG00000028784

Gene Name

SPOC domain containing 1

Synonyms

OTTMUSG00000009522

MMRRC Submission

044338-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129929249-129957115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129955415 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 676 (P676S)

Ref Sequence

ENSEMBL: ENSMUSP00000081284 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084263
AA Change: P676S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: P676S

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 benign
Transcript: ENSMUST00000128007

SMART Domains

Protein: ENSMUSP00000118383
Gene: ENSMUSG00000028784

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147634

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,850		probably null	Het
1700061G19Rik	A	G	17: 56,882,679	S265G	probably damaging	Het
2610318N02Rik	A	G	16: 17,118,369	S164P	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam19	A	C	11: 46,121,502	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,777,193	T84S	possibly damaging	Het
Asl	C	T	5: 130,018,916	V70I	probably benign	Het
Atp2c1	A	G	9: 105,521,072	S26P	probably benign	Het
Bcas3	A	T	11: 85,509,435	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,314,285		probably null	Het
Cfh	A	G	1: 140,105,440	S789P	probably damaging	Het
Cltc	T	C	11: 86,720,362	N561S	probably benign	Het
Cnst	A	G	1: 179,592,865	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,313,877	T422A	probably benign	Het
Cyp2c55	A	T	19: 39,007,121	R26*	probably null	Het
Dgkb	A	T	12: 38,173,823	M414L	probably benign	Het
Dgkd	A	G	1: 87,924,208	D444G	probably damaging	Het
Dnmt3c	T	C	2: 153,720,009	V544A	noncoding transcript	Het
Dus3l	A	T	17: 56,767,858	T327S	possibly damaging	Het
Elf2	A	T	3: 51,277,249	L5Q	probably damaging	Het
Fam69b	A	G	2: 26,635,698	K215E	probably damaging	Het
Fxyd6	A	G	9: 45,390,670	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,292,590	T1375S	probably benign	Het
Git2	A	T	5: 114,745,495	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm9573	T	A	17: 35,620,916		probably benign	Het
Golgb1	T	C	16: 36,893,395	L246P	probably damaging	Het
Grp	G	T	18: 65,879,986	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,924,082	M391K	probably damaging	Het
Itih2	A	G	2: 10,098,541	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,438,997	V1626E	probably benign	Het
Klhl40	A	G	9: 121,778,767	Y331C	probably damaging	Het
Kprp	T	A	3: 92,824,687	Y352F	probably damaging	Het
Lama2	G	T	10: 27,188,022	H1286Q	probably damaging	Het
Lgi4	T	A	7: 31,069,122		probably null	Het
Lrrc47	A	T	4: 154,015,672	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,548,786	I308F	probably damaging	Het
Map7d1	T	A	4: 126,241,843	K135M	probably damaging	Het
March5	A	G	19: 37,210,741	R36G	probably damaging	Het
Mtx3	C	A	13: 92,852,851	P299Q	probably benign	Het
Ncapd2	C	A	6: 125,179,323	E500*	probably null	Het
Nckap5l	T	C	15: 99,425,988	K878R	probably damaging	Het
Nphs1	T	C	7: 30,467,915	I756T	probably damaging	Het
Olfm4	T	G	14: 80,000,373	S17A	probably benign	Het
Olfr1270	A	T	2: 90,149,438	D189E	probably damaging	Het
Olfr344	A	G	2: 36,568,951	M118V	probably damaging	Het
Pak1ip1	G	T	13: 41,001,410	Q27H	probably benign	Het
Piezo2	A	T	18: 63,157,210	C159*	probably null	Het
Pkn2	G	T	3: 142,810,404	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,247,611	M198K	probably benign	Het
Rrm1	T	G	7: 102,446,729		probably null	Het
Setd3	T	C	12: 108,165,168	K7E	possibly damaging	Het
Shc1	A	G	3: 89,422,107	K86R	probably benign	Het
Slc16a7	T	C	10: 125,228,215	T418A	probably benign	Het
Spp1	A	G	5: 104,439,508		probably null	Het
Syne1	A	G	10: 5,302,269	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,414,121	S42P	probably benign	Het
Tmem63b	C	T	17: 45,661,516	V722I	probably benign	Het
Ubqln1	A	G	13: 58,196,590	S130P	probably benign	Het
Usp34	G	T	11: 23,484,127	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,409,510	Y517C	probably damaging	Het
Vps13d	A	T	4: 145,148,990	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,657,153	S405P	probably damaging	Het
Zfp9	T	C	6: 118,477,321	M1V	probably null	Het
Zfp946	A	T	17: 22,454,915	S217C	probably damaging	Het
Zfp970	T	A	2: 177,475,460	C276S	probably damaging	Het
Zswim5	T	A	4: 116,878,007	F183Y	probably benign	Het

Other mutations in Spocd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Spocd1	APN	4	129953587	missense	probably damaging	0.99
IGL02332:Spocd1	APN	4	129949092	missense	probably damaging	1.00
IGL02796:Spocd1	APN	4	129947755	intron	probably benign
R0005:Spocd1	UTSW	4	129956778	missense	possibly damaging	0.73
R0499:Spocd1	UTSW	4	129955470	missense	possibly damaging	0.56
R0939:Spocd1	UTSW	4	129948870	missense	possibly damaging	0.93
R1128:Spocd1	UTSW	4	129956806	missense	possibly damaging	0.57
R5747:Spocd1	UTSW	4	129954945	missense	probably damaging	1.00
R5774:Spocd1	UTSW	4	129951786	missense	probably benign	0.04
R5872:Spocd1	UTSW	4	129956461	missense	probably damaging	0.99
R5887:Spocd1	UTSW	4	129948959	missense	probably damaging	1.00
R6185:Spocd1	UTSW	4	129956449	missense	probably benign	0.02
R6245:Spocd1	UTSW	4	129957108	splice site	probably null
R6412:Spocd1	UTSW	4	129953572	missense	probably benign	0.44
R6804:Spocd1	UTSW	4	129953630	nonsense	probably null
R6884:Spocd1	UTSW	4	129955404	unclassified	probably benign
R6898:Spocd1	UTSW	4	129956512	unclassified	probably benign
R7090:Spocd1	UTSW	4	129953898	missense
R7548:Spocd1	UTSW	4	129929809	missense
R7570:Spocd1	UTSW	4	129930164	missense
R7657:Spocd1	UTSW	4	129929742	missense
R7910:Spocd1	UTSW	4	129930100	missense
R8141:Spocd1	UTSW	4	129929704	missense
R8557:Spocd1	UTSW	4	129948968	missense	probably damaging	1.00
Z1177:Spocd1	UTSW	4	129929977	missense
Z1177:Spocd1	UTSW	4	129955513	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGCTTCTTCCTAGAACAGCAG -3'
(R):5'- GGGCATGTAAGTGGTTCTCAC -3'

Sequencing Primer
(F):5'- TCTTTCACAGGGGTCACACATCAG -3'
(R):5'- TGGTTCTCACCTGGGCC -3'

Posted On

2018-02-27