Mutagenetix > Incidental Mutation

Incidental Mutation 'R6884:Spocd1'

536832

Institutional Source

Beutler Lab

Gene Symbol

Spocd1

Ensembl Gene

ENSMUSG00000028784

Gene Name

SPOC domain containing 1

Synonyms

OTTMUSG00000009522

MMRRC Submission

044979-MU

Accession Numbers

Essential gene?

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

Stock #

R6884 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129823042-129850908 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 129849197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118383 (fasta)

Gene Model

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

AlphaFold

B1ASB6

Predicted Effect

unknown
Transcript: ENSMUST00000084263
AA Change: I672T

SMART Domains

Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: I672T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,407 (GRCm39)		probably benign	Het
Abca5	C	T	11: 110,220,043 (GRCm39)	V8M	probably damaging	Het
Ahnak2	A	T	12: 112,741,863 (GRCm39)	D736E	possibly damaging	Het
Brpf3	A	G	17: 29,050,324 (GRCm39)	D1072G	probably benign	Het
Cacna1i	C	T	15: 80,259,010 (GRCm39)	R1240C	probably damaging	Het
Ccdc40	A	T	11: 119,133,565 (GRCm39)	E568D	possibly damaging	Het
Col12a1	C	T	9: 79,547,091 (GRCm39)	G2247E	possibly damaging	Het
Dapk3	T	A	10: 81,027,588 (GRCm39)		probably null	Het
Dcaf13	T	C	15: 38,986,635 (GRCm39)	W136R	probably damaging	Het
Dip2a	C	A	10: 76,108,366 (GRCm39)		probably null	Het
Eif3c	T	C	7: 126,156,051 (GRCm39)	D473G	probably benign	Het
Erich2	G	A	2: 70,339,505 (GRCm39)	R20H	possibly damaging	Het
Gcnt7	T	C	2: 172,296,125 (GRCm39)	N233S	probably damaging	Het
Gdpd4	G	T	7: 97,621,382 (GRCm39)	L208F	probably damaging	Het
Gm10269	T	A	18: 20,815,932 (GRCm39)	Q30L	possibly damaging	Het
Gm7298	A	T	6: 121,737,480 (GRCm39)	I295F	possibly damaging	Het
Htr7	A	G	19: 35,941,779 (GRCm39)		probably null	Het
Ing1	A	G	8: 11,611,916 (GRCm39)	Y118C	probably damaging	Het
Krtap16-1	C	T	11: 99,877,284 (GRCm39)	W40*	probably null	Het
Krtap26-1	A	T	16: 88,444,467 (GRCm39)	D51E	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp1	T	A	10: 127,394,986 (GRCm39)	Q2513L	probably benign	Het
Morf4l1	A	T	9: 89,976,532 (GRCm39)	N265K	probably damaging	Het
Mpp2	T	C	11: 101,952,904 (GRCm39)	D299G	probably benign	Het
Mtcl1	C	T	17: 66,745,197 (GRCm39)	G55R	probably damaging	Het
Myb	T	A	10: 21,028,431 (GRCm39)	K144I	probably damaging	Het
Myo18a	T	C	11: 77,709,875 (GRCm39)	I587T	possibly damaging	Het
Nr2c2	A	G	6: 92,135,374 (GRCm39)	S288G	probably benign	Het
Obscn	A	G	11: 58,969,128 (GRCm39)	Y2700H	probably damaging	Het
Or2z9	T	C	8: 72,854,345 (GRCm39)	V247A	probably benign	Het
Or6c3	T	A	10: 129,309,023 (GRCm39)	F154Y	probably damaging	Het
Pde6b	A	G	5: 108,536,574 (GRCm39)	D90G	probably damaging	Het
Pigo	A	G	4: 43,022,627 (GRCm39)	F315L	possibly damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ret	T	C	6: 118,132,362 (GRCm39)	D1026G	probably damaging	Het
Rptn	A	T	3: 93,303,096 (GRCm39)	Q143L	probably benign	Het
Rubcnl	A	G	14: 75,272,910 (GRCm39)	E210G	probably benign	Het
Serpina1b	T	A	12: 103,698,712 (GRCm39)	T46S	probably benign	Het
Serpinb9e	A	T	13: 33,435,609 (GRCm39)	H14L	probably benign	Het
Shoc1	A	G	4: 59,059,652 (GRCm39)	S1003P	possibly damaging	Het
Slc25a25	A	C	2: 32,310,674 (GRCm39)	V168G	probably benign	Het
Slc35e1	T	C	8: 73,238,726 (GRCm39)	T261A	possibly damaging	Het
Tmem222	A	T	4: 132,995,514 (GRCm39)	Y178N	probably damaging	Het
Top1mt	C	T	15: 75,535,893 (GRCm39)	E470K	probably benign	Het
Traj42	T	C	14: 54,413,290 (GRCm39)		probably benign	Het
Tshr	T	C	12: 91,504,876 (GRCm39)	Y13H	probably damaging	Het
Uvssa	A	G	5: 33,566,461 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,633 (GRCm39)	V159I	probably benign	Het
Vmn2r73	T	A	7: 85,507,213 (GRCm39)	T700S	probably benign	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
R5887:Spocd1	UTSW	4	129,842,752 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCTTCTTCCTAGAACAGCAG -3'
(R):5'- GGGCATGTAAGTGGTTCTCAC -3'

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

Posted On

2018-10-18