Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Smoc1'

449819

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

044059-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5839 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

81073582-81233188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81214359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 247 (I247T)

Ref Sequence

ENSEMBL: ENSMUSP00000021564 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021564
AA Change: I247T

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

SMART Domains

Protein: ENSMUSP00000021564
Gene: ENSMUSG00000021136
AA Change: I247T

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 damaging
Transcript: ENSMUST00000110347
AA Change: I258T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105976
Gene: ENSMUSG00000021136
AA Change: I258T

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 damaging
Transcript: ENSMUST00000129362
AA Change: I247T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122858
Gene: ENSMUSG00000021136
AA Change: I247T

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

noncoding transcript
Transcript: ENSMUST00000174932

Meta Mutation Damage Score

0.8664

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	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
R4767:Smoc1	UTSW	12	81,151,547 (GRCm39)	critical splice donor site	probably null
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
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'- TCGGGGATGATTCACGGTTC -3'
(R):5'- CAGTCTCCTGTGACTTGAGTCTG -3'

Sequencing Primer
(F):5'- CACGGTTCTTTGGGGGCAG -3'
(R):5'- CTCCTGTGACTTGAGTCTGTGAGAAG -3'

Posted On

2016-12-20