Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Smoc1'

366238

Institutional Source

Beutler Lab

Gene Symbol

Smoc1

Ensembl Gene

ENSMUSG00000021136

Gene Name

SPARC related modular calcium binding 1

Synonyms

2600002F22Rik, SRG, SPARC-related protein

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81073582-81233188 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 81151547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021564] [ENSMUST00000021564] [ENSMUST00000110347] [ENSMUST00000110347] [ENSMUST00000129362] [ENSMUST00000129362]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000021564

SMART Domains

Protein: ENSMUSP00000021564
Gene: ENSMUSG00000021136

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
KAZAL	41	86	6.91e-8	SMART
TY	114	161	8.41e-12	SMART
TY	247	295	1.79e-15	SMART
Pfam:SPARC_Ca_bdg	311	423	1.6e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000021564

SMART Domains

Protein: ENSMUSP00000021564
Gene: ENSMUSG00000021136

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
KAZAL	41	86	6.91e-8	SMART
TY	114	161	8.41e-12	SMART
TY	247	295	1.79e-15	SMART
Pfam:SPARC_Ca_bdg	311	423	1.6e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110347

SMART Domains

Protein: ENSMUSP00000105976
Gene: ENSMUSG00000021136

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
KAZAL	41	86	6.91e-8	SMART
TY	114	161	8.41e-12	SMART
TY	258	306	1.79e-15	SMART
Pfam:SPARC_Ca_bdg	323	434	2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110347

SMART Domains

Protein: ENSMUSP00000105976
Gene: ENSMUSG00000021136

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
KAZAL	41	86	6.91e-8	SMART
TY	114	161	8.41e-12	SMART
TY	258	306	1.79e-15	SMART
Pfam:SPARC_Ca_bdg	323	434	2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000129362

SMART Domains

Protein: ENSMUSP00000122858
Gene: ENSMUSG00000021136

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
KAZAL	41	86	6.91e-8	SMART
TY	114	161	8.41e-12	SMART
TY	247	295	1.79e-15	SMART
Pfam:SPARC_Ca_bdg	311	423	1.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000129362

SMART Domains

Protein: ENSMUSP00000122858
Gene: ENSMUSG00000021136

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
KAZAL	41	86	6.91e-8	SMART
TY	114	161	8.41e-12	SMART
TY	247	295	1.79e-15	SMART
Pfam:SPARC_Ca_bdg	311	423	1.5e-14	PFAM

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a transposon-induced allele exhibit ocular and limb defects. Mice homozygous for a knock-out allele exhibit neonatal lethality, osseous syndactyly, decreased body size, and iris and retina coloboma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,029,804 (GRCm39)		probably null	Het
Aig1	T	C	10: 13,677,602 (GRCm39)	N130S	probably damaging	Het
Alx1	A	T	10: 102,861,047 (GRCm39)	Y160*	probably null	Het
Ap4e1	T	C	2: 126,902,358 (GRCm39)	I755T	probably benign	Het
Apoc3	C	A	9: 46,145,833 (GRCm39)	E21*	probably null	Het
Atp9b	G	T	18: 80,796,285 (GRCm39)	H919Q	probably damaging	Het
Cemip	T	G	7: 83,622,514 (GRCm39)	Y555S	probably damaging	Het
Cic	T	C	7: 24,971,025 (GRCm39)	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,588,470 (GRCm39)	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,859,954 (GRCm39)	S318P	probably benign	Het
Ddx21	A	G	10: 62,427,751 (GRCm39)	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,620 (GRCm39)	T974I	probably benign	Het
Duox1	A	G	2: 122,163,922 (GRCm39)	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,066,498 (GRCm39)	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,591,119 (GRCm39)	Q92L	possibly damaging	Het
Ercc4	C	A	16: 12,939,959 (GRCm39)	A73D	probably damaging	Het
Eva1c	A	T	16: 90,701,235 (GRCm39)	Y290F	probably damaging	Het
Galnt5	T	A	2: 57,918,156 (GRCm39)	V798E	possibly damaging	Het
Haus4	T	C	14: 54,786,342 (GRCm39)	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,594,556 (GRCm39)	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Lama3	T	C	18: 12,633,620 (GRCm39)	V1584A	probably benign	Het
Lamb1	A	G	12: 31,358,010 (GRCm39)	E1119G	probably damaging	Het
Lao1	T	C	4: 118,825,185 (GRCm39)	L335P	probably damaging	Het
Mindy4	A	G	6: 55,237,550 (GRCm39)	D375G	probably damaging	Het
Myo5a	T	C	9: 75,051,358 (GRCm39)	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,558,898 (GRCm39)	V128I	probably benign	Het
Nlrp2	C	T	7: 5,331,023 (GRCm39)	D458N	probably damaging	Het
Or1j18	A	T	2: 36,624,335 (GRCm39)	M1L	probably benign	Het
Or1o1	T	A	17: 37,717,091 (GRCm39)	C217*	probably null	Het
Or5a1	G	T	19: 12,097,300 (GRCm39)	H247N	probably damaging	Het
Or8g24	T	C	9: 38,989,988 (GRCm39)	T18A	possibly damaging	Het
Or9q2	A	T	19: 13,772,409 (GRCm39)	C189S	probably damaging	Het
Parp8	T	C	13: 117,005,072 (GRCm39)	H663R	probably damaging	Het
Pax6	T	C	2: 105,525,705 (GRCm39)	S377P	probably benign	Het
Pi15	A	G	1: 17,672,990 (GRCm39)	D63G	probably benign	Het
Plaa	A	G	4: 94,474,495 (GRCm39)		probably benign	Het
Rbm5	C	A	9: 107,622,412 (GRCm39)	W546C	probably damaging	Het
Rnf123	C	A	9: 107,929,288 (GRCm39)	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,382,551 (GRCm39)	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,788,697 (GRCm39)	S241P	possibly damaging	Het
Slfn8	G	A	11: 82,894,023 (GRCm39)	A872V	possibly damaging	Het
Sox14	A	T	9: 99,757,686 (GRCm39)	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,848,969 (GRCm39)	E1053G	probably benign	Het
Syne1	T	A	10: 5,294,866 (GRCm39)	K1246*	probably null	Het
Tbrg4	A	C	11: 6,570,909 (GRCm39)	S188A	probably benign	Het
Thnsl2	A	T	6: 71,111,279 (GRCm39)	D196E	probably damaging	Het
Tmem266	C	T	9: 55,288,025 (GRCm39)	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,938,748 (GRCm39)	R111L	probably benign	Het
Tpr	T	C	1: 150,306,280 (GRCm39)		probably benign	Het
Trpc6	T	C	9: 8,643,687 (GRCm39)	S491P	probably damaging	Het
Tspan10	A	T	11: 120,336,992 (GRCm39)	N254I	probably damaging	Het
Ubox5	A	T	2: 130,433,814 (GRCm39)	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 23,754,531 (GRCm39)		probably null	Het
Vmn2r4	C	T	3: 64,298,397 (GRCm39)	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,291,606 (GRCm39)	M53K	probably benign	Het
Zfp948	T	A	17: 21,808,569 (GRCm39)	I587N	possibly damaging	Het

Other mutations in Smoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Smoc1	APN	12	81,199,525 (GRCm39)	nonsense	probably null
R1291:Smoc1	UTSW	12	81,226,365 (GRCm39)	missense	probably damaging	0.97
R1902:Smoc1	UTSW	12	81,151,445 (GRCm39)	missense	probably benign	0.32
R2109:Smoc1	UTSW	12	81,197,450 (GRCm39)	missense	probably damaging	0.99
R2567:Smoc1	UTSW	12	81,214,364 (GRCm39)	missense	probably damaging	0.99
R3900:Smoc1	UTSW	12	81,214,287 (GRCm39)	missense	probably damaging	0.98
R4663:Smoc1	UTSW	12	81,214,376 (GRCm39)	missense	probably damaging	1.00
R4762:Smoc1	UTSW	12	81,214,425 (GRCm39)	missense	probably damaging	1.00
R4836:Smoc1	UTSW	12	81,226,322 (GRCm39)	missense	probably damaging	1.00
R5264:Smoc1	UTSW	12	81,151,474 (GRCm39)	missense	probably damaging	0.99
R5839:Smoc1	UTSW	12	81,214,359 (GRCm39)	missense	probably damaging	1.00
R5898:Smoc1	UTSW	12	81,151,531 (GRCm39)	nonsense	probably null
R7359:Smoc1	UTSW	12	81,197,475 (GRCm39)	missense	probably damaging	1.00
R7611:Smoc1	UTSW	12	81,226,444 (GRCm39)	missense	probably damaging	1.00
R7655:Smoc1	UTSW	12	81,152,682 (GRCm39)	missense	possibly damaging	0.95
R7656:Smoc1	UTSW	12	81,152,682 (GRCm39)	missense	possibly damaging	0.95
R8175:Smoc1	UTSW	12	81,214,440 (GRCm39)	missense	probably damaging	0.97
R8723:Smoc1	UTSW	12	81,182,586 (GRCm39)	missense	possibly damaging	0.94
R8985:Smoc1	UTSW	12	81,226,261 (GRCm39)	missense	probably damaging	0.99
R9306:Smoc1	UTSW	12	81,214,430 (GRCm39)	missense	possibly damaging	0.75
V8831:Smoc1	UTSW	12	81,215,029 (GRCm39)	missense	probably damaging	1.00
Z1177:Smoc1	UTSW	12	81,073,924 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTACTAACTAAGGGGAAGCCAAGAC -3'
(R):5'- TGGCAGTGTCTGAAGATCAGG -3'

Sequencing Primer
(F):5'- GACTATAAGTCATGGGTCTCTCC -3'
(R):5'- TCTGAAGATCAGGGAAGTGTTC -3'

Posted On

2015-12-21