Mutagenetix > Incidental Mutation

Incidental Mutation 'R8723:Smoc1'

662236

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

068615-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81073582-81233188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81182586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 138 (V138I)

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: V138I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021564
Gene: ENSMUSG00000021136
AA Change: V138I

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

possibly damaging
Transcript: ENSMUST00000110347
AA Change: V138I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105976
Gene: ENSMUSG00000021136
AA Change: V138I

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: V138I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122858
Gene: ENSMUSG00000021136
AA Change: V138I

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,360,897 (GRCm39)	H465Q	probably benign	Het
Adam29	T	C	8: 56,324,513 (GRCm39)	H647R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Adgrg7	T	G	16: 56,582,282 (GRCm39)	R285S	probably benign	Het
Alkbh1	A	G	12: 87,485,278 (GRCm39)	V115A	probably benign	Het
Ankrd50	A	C	3: 38,511,453 (GRCm39)	F305V	probably damaging	Het
Anpep	A	G	7: 79,488,686 (GRCm39)	S414P	probably damaging	Het
Anxa3	A	G	5: 96,986,206 (GRCm39)	I282V	probably benign	Het
Aoah	T	G	13: 21,184,180 (GRCm39)	Y415D	possibly damaging	Het
Cacna1b	A	G	2: 24,548,510 (GRCm39)	V1188A	probably damaging	Het
Cnot1	A	G	8: 96,462,907 (GRCm39)	I1651T	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Ctnnd1	G	A	2: 84,450,384 (GRCm39)	P279S	probably benign	Het
Dnah10	A	T	5: 124,891,685 (GRCm39)	E3298V	probably damaging	Het
Ear14	C	T	14: 51,441,513 (GRCm39)	T123I	possibly damaging	Het
Elf3	A	G	1: 135,185,385 (GRCm39)	L43P	possibly damaging	Het
Exoc3l4	T	A	12: 111,397,092 (GRCm39)		probably benign	Het
Figla	A	G	6: 85,997,724 (GRCm39)	T151A	probably benign	Het
Fsd1l	A	G	4: 53,647,001 (GRCm39)	E56G	unknown	Het
Gm49359	A	T	13: 62,602,410 (GRCm39)	H263Q	probably damaging	Het
Gprc6a	A	T	10: 51,491,518 (GRCm39)	C744S	probably damaging	Het
Grhl1	G	A	12: 24,662,244 (GRCm39)		probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Itih3	T	A	14: 30,630,761 (GRCm39)	Q850L	probably damaging	Het
Kcnq5	A	G	1: 21,575,591 (GRCm39)	V285A	probably damaging	Het
Klc4	T	G	17: 46,951,626 (GRCm39)	E165A	probably benign	Het
Lrp2	T	C	2: 69,316,648 (GRCm39)	Y2111C	probably damaging	Het
Lyst	A	G	13: 13,887,342 (GRCm39)	E3057G	possibly damaging	Het
Macf1	G	A	4: 123,348,910 (GRCm39)	Q4006*	probably null	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Ms4a20	A	G	19: 11,083,055 (GRCm39)	Y122H	probably damaging	Het
Myh14	A	G	7: 44,272,407 (GRCm39)	F1466S	probably damaging	Het
Nrip1	T	C	16: 76,089,553 (GRCm39)	D668G	probably damaging	Het
Or5w17	T	C	2: 87,583,501 (GRCm39)	T279A	possibly damaging	Het
Or8k3	A	T	2: 86,058,786 (GRCm39)	H176Q	probably damaging	Het
P2rx1	C	A	11: 72,899,756 (GRCm39)	N120K	probably benign	Het
Pif1	T	A	9: 65,501,673 (GRCm39)	M569K	probably damaging	Het
Prkd2	G	A	7: 16,591,702 (GRCm39)	V578I	possibly damaging	Het
Rhobtb1	A	G	10: 69,106,101 (GRCm39)	Y284C	probably damaging	Het
Rps6kb1	T	C	11: 86,410,757 (GRCm39)	T164A	possibly damaging	Het
Rxfp1	T	C	3: 79,557,802 (GRCm39)	T559A	probably benign	Het
Sag	G	A	1: 87,751,175 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,212,215 (GRCm39)	I1081N	probably damaging	Het
Stk25	A	G	1: 93,553,666 (GRCm39)	I203T	probably damaging	Het
Strip2	T	A	6: 29,941,863 (GRCm39)	V611E	probably damaging	Het
Sulf1	A	T	1: 12,856,911 (GRCm39)	D54V	probably damaging	Het
Tacr2	A	G	10: 62,094,107 (GRCm39)	D188G	probably damaging	Het
Tmem237	A	T	1: 59,145,731 (GRCm39)	Y358N	probably damaging	Het
Trim27	A	C	13: 21,374,807 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,698,149 (GRCm39)	E139G	probably benign	Het
Ttc39a	T	A	4: 109,300,700 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,671,899 (GRCm39)	I781N	probably damaging	Het
Uqcc1	C	T	2: 155,729,100 (GRCm39)	W21*	probably null	Het
Vmn2r117	A	T	17: 23,696,343 (GRCm39)	W355R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,910 (GRCm39)	V420A	probably benign	Het
Zdhhc21	A	T	4: 82,762,439 (GRCm39)	I52K	probably benign	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
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
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'- ACATGACATTGATGCTGGCTC -3'
(R):5'- ACCAAGCATAGAGTGGAACC -3'

Sequencing Primer
(F):5'- ATTGATGCTGGCTCCACCG -3'
(R):5'- AGTGGAACCCTTCTGACATG -3'

Posted On

2021-03-08