Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Smoc1'

588621

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

045715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81073582-81233188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81226444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 423 (D423G)

Ref Sequence

ENSEMBL: ENSMUSP00000105976 (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: D412G

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

SMART Domains

Protein: ENSMUSP00000021564
Gene: ENSMUSG00000021136
AA Change: D412G

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: D423G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105976
Gene: ENSMUSG00000021136
AA Change: D423G

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: D412G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122858
Gene: ENSMUSG00000021136
AA Change: D412G

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

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy8	C	T	15: 64,792,882 (GRCm39)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,751,749 (GRCm39)	D35E		Het
Birc6	T	C	17: 74,969,713 (GRCm39)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,534,918 (GRCm39)	F45V	probably damaging	Het
Camta2	A	T	11: 70,572,372 (GRCm39)	I313N	possibly damaging	Het
Capns1	T	A	7: 29,889,539 (GRCm39)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,197,315 (GRCm39)	V1374L	probably benign	Het
Casp2	T	G	6: 42,250,972 (GRCm39)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,228,980 (GRCm39)	V19L	probably benign	Het
Ces1c	T	C	8: 93,851,139 (GRCm39)	N162D	probably benign	Het
Cfap96	A	G	8: 46,423,488 (GRCm39)	Y75H	probably damaging	Het
Chd9	T	C	8: 91,763,017 (GRCm39)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,285,999 (GRCm39)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,127,600 (GRCm39)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,627,757 (GRCm39)	T405S	probably benign	Het
Cmah	T	C	13: 24,619,630 (GRCm39)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,797,191 (GRCm39)	M396K	probably benign	Het
Ddr2	A	T	1: 169,825,727 (GRCm39)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,309,635 (GRCm39)	I145N	probably benign	Het
Ephb2	T	A	4: 136,388,212 (GRCm39)		probably null	Het
Fgfr1	A	T	8: 26,048,221 (GRCm39)	K106*	probably null	Het
Gpr6	A	G	10: 40,946,875 (GRCm39)	F236L	probably benign	Het
Grin2c	A	G	11: 115,143,511 (GRCm39)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hmg20b	T	A	10: 81,185,432 (GRCm39)		probably benign	Het
Kcnk10	T	A	12: 98,484,899 (GRCm39)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,939,424 (GRCm39)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,036,432 (GRCm39)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,231,352 (GRCm39)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,654,266 (GRCm39)	A84T	probably benign	Het
Mmp19	A	G	10: 128,634,857 (GRCm39)	D491G	probably benign	Het
Mug1	A	T	6: 121,852,387 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,101,243 (GRCm39)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 95,239,276 (GRCm39)		probably null	Het
Nme9	T	A	9: 99,352,843 (GRCm39)	S264R	probably benign	Het
Nup153	T	C	13: 46,840,798 (GRCm39)	T937A	probably benign	Het
Obsl1	T	C	1: 75,482,024 (GRCm39)	E282G	probably damaging	Het
Or1o3	A	G	17: 37,573,745 (GRCm39)	V270A	probably benign	Het
Or2w2	A	G	13: 21,758,488 (GRCm39)	V46A	probably benign	Het
Or4l15	C	A	14: 50,198,368 (GRCm39)	A54S	probably benign	Het
Or5an10	T	A	19: 12,276,242 (GRCm39)	M85L	probably damaging	Het
Or5b99	T	A	19: 12,976,431 (GRCm39)	I27N	possibly damaging	Het
Or5m5	T	A	2: 85,814,407 (GRCm39)	C74*	probably null	Het
Or8k30	T	A	2: 86,339,397 (GRCm39)	I198K	possibly damaging	Het
Pcdhga12	T	C	18: 37,901,478 (GRCm39)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,655,119 (GRCm39)		probably null	Het
Prr29	C	G	11: 106,267,158 (GRCm39)	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,219 (GRCm39)	M1103K	probably benign	Het
Rigi	T	C	4: 40,225,651 (GRCm39)	E250G	probably damaging	Het
Rsph4a	C	T	10: 33,781,473 (GRCm39)	P108S	probably benign	Het
Setd1b	A	C	5: 123,290,657 (GRCm39)	M875L	unknown	Het
Slc15a2	A	G	16: 36,576,673 (GRCm39)	S485P	probably benign	Het
Spast	T	A	17: 74,676,198 (GRCm39)	V337D	probably damaging	Het
Spesp1	T	C	9: 62,179,987 (GRCm39)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,906,467 (GRCm39)	E503G	probably benign	Het
Susd6	T	C	12: 80,921,341 (GRCm39)	Y313H	probably damaging	Het
Them4	A	T	3: 94,238,865 (GRCm39)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Tspear	A	T	10: 77,717,049 (GRCm39)	T575S	probably benign	Het
Usp21	A	T	1: 171,113,142 (GRCm39)	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,286,322 (GRCm39)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,515,944 (GRCm39)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,484,255 (GRCm39)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,472,563 (GRCm39)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 85,879,388 (GRCm39)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,651,454 (GRCm39)	Y256S		Het
Zfhx4	A	T	3: 5,468,831 (GRCm39)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,795,988 (GRCm39)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,034,130 (GRCm39)	E705G	probably 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
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
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
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'- TCAGGTTCTCAGAGCCAGAC -3'
(R):5'- TGTGTAAGAATAGGAACCTCACCAG -3'

Sequencing Primer
(F):5'- GTTCTCAGAGCCAGACCCCAG -3'
(R):5'- GCTAGGCCCTGAATCACAG -3'

Posted On

2019-10-24