Mutagenetix > Incidental Mutation

Incidental Mutation 'R3882:Suco'

312804

Institutional Source

Beutler Lab

Gene Symbol

Suco

Ensembl Gene

ENSMUSG00000040297

Gene Name

SUN domain containing ossification factor

Synonyms

AI848100, osteopotentia, Opt

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R3882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161643683-161704251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 161662313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 706 (V706E)

Ref Sequence

ENSEMBL: ENSMUSP00000044815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048377]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048377
AA Change: V706E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: V706E

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	32	41	N/A	INTRINSIC
low complexity region	117	145	N/A	INTRINSIC
low complexity region	208	224	N/A	INTRINSIC
low complexity region	272	284	N/A	INTRINSIC
Pfam:Sad1_UNC	325	455	9e-43	PFAM
low complexity region	665	683	N/A	INTRINSIC
low complexity region	745	758	N/A	INTRINSIC
coiled coil region	933	1009	N/A	INTRINSIC
low complexity region	1014	1030	N/A	INTRINSIC
low complexity region	1105	1119	N/A	INTRINSIC
low complexity region	1163	1176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194388

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (33/34)

MGI Phenotype

PHENOTYPE: Mice homozygous for a mutation in this gene display background strain-dependent neonatal and postnatal lethality, and impaired osteoblast differentiation resulting in impaired bone formation, brittle bones, and impaired fracture repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	T	9: 106,312,708 (GRCm39)	T181K	possibly damaging	Het
Adcy4	A	G	14: 56,012,003 (GRCm39)	F581L	probably benign	Het
Amhr2	G	A	15: 102,354,333 (GRCm39)	G48D	probably damaging	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Arhgef17	A	G	7: 100,525,661 (GRCm39)	F1979S	possibly damaging	Het
Bltp2	T	A	11: 78,153,526 (GRCm39)	W24R	probably damaging	Het
C2	T	C	17: 35,092,465 (GRCm39)	T191A	probably benign	Het
Cmya5	T	A	13: 93,227,727 (GRCm39)	T2454S	probably benign	Het
Dstn	A	G	2: 143,784,107 (GRCm39)	E150G	probably benign	Het
Dync1h1	G	T	12: 110,595,492 (GRCm39)	V1444F	probably benign	Het
Eif3f	T	C	7: 108,540,162 (GRCm39)	V319A	possibly damaging	Het
Gpha2	T	C	19: 6,276,919 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,421,420 (GRCm39)	V648A	possibly damaging	Het
Jup	A	G	11: 100,269,207 (GRCm39)	V402A	probably benign	Het
Kif18a	A	G	2: 109,137,319 (GRCm39)	N517S	probably benign	Het
Kif20b	T	A	19: 34,927,480 (GRCm39)	I874N	probably damaging	Het
Lepr	T	A	4: 101,672,462 (GRCm39)	V1162E	probably damaging	Het
Man2a2	A	T	7: 80,012,063 (GRCm39)	V698D	possibly damaging	Het
Miip	A	C	4: 147,945,509 (GRCm39)	S376A	possibly damaging	Het
Nsun7	G	A	5: 66,435,983 (GRCm39)	R285Q	probably damaging	Het
Nup210l	T	C	3: 90,031,517 (GRCm39)	V281A	probably benign	Het
Paxip1	C	T	5: 27,953,837 (GRCm39)	R953Q	probably damaging	Het
Pcdha8	C	A	18: 37,126,099 (GRCm39)	L194I	probably damaging	Het
Pcdha8	A	G	18: 37,126,624 (GRCm39)	I369V	probably benign	Het
Pcdhga10	C	A	18: 37,880,494 (GRCm39)	A85E	possibly damaging	Het
Ppfibp1	A	G	6: 146,899,719 (GRCm39)	R137G	possibly damaging	Het
Rcor1	C	T	12: 111,070,187 (GRCm39)	A230V	probably damaging	Het
Scn3a	T	C	2: 65,312,623 (GRCm39)	M1191V	probably benign	Het
Skor2	A	G	18: 76,950,384 (GRCm39)	D904G	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Vmn1r83	A	T	7: 12,055,329 (GRCm39)	C243S	probably damaging	Het
Wdr17	A	T	8: 55,092,536 (GRCm39)	C1083S	possibly damaging	Het
Zfp952	G	T	17: 33,220,949 (GRCm39)	E18*	probably null	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het
Zscan25	G	T	5: 145,227,862 (GRCm39)	G509C	probably damaging	Het

Other mutations in Suco

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Suco	APN	1	161,661,689 (GRCm39)	missense	probably damaging	1.00
IGL01688:Suco	APN	1	161,691,480 (GRCm39)	splice site	probably null
IGL01794:Suco	APN	1	161,655,294 (GRCm39)	missense	probably benign	0.01
IGL01891:Suco	APN	1	161,666,371 (GRCm39)	missense	probably damaging	1.00
IGL02028:Suco	APN	1	161,684,428 (GRCm39)	missense	possibly damaging	0.95
IGL02102:Suco	APN	1	161,655,274 (GRCm39)	missense	probably damaging	1.00
IGL02351:Suco	APN	1	161,646,195 (GRCm39)	missense	probably benign	0.35
IGL02358:Suco	APN	1	161,646,195 (GRCm39)	missense	probably benign	0.35
IGL02392:Suco	APN	1	161,662,136 (GRCm39)	missense	probably benign	0.11
IGL02638:Suco	APN	1	161,655,256 (GRCm39)	missense	probably damaging	1.00
IGL02650:Suco	APN	1	161,676,322 (GRCm39)	splice site	probably benign
IGL03106:Suco	APN	1	161,662,049 (GRCm39)	missense	possibly damaging	0.91
IGL03189:Suco	APN	1	161,684,906 (GRCm39)	unclassified	probably benign
IGL03328:Suco	APN	1	161,647,990 (GRCm39)	missense	probably damaging	0.99
girth	UTSW	1	161,655,809 (GRCm39)	missense	possibly damaging	0.86
pleasingly	UTSW	1	161,661,977 (GRCm39)	missense	possibly damaging	0.65
3-1:Suco	UTSW	1	161,649,600 (GRCm39)	intron	probably benign
H8562:Suco	UTSW	1	161,680,420 (GRCm39)	missense	probably damaging	1.00
H8786:Suco	UTSW	1	161,680,420 (GRCm39)	missense	probably damaging	1.00
R0023:Suco	UTSW	1	161,673,154 (GRCm39)	splice site	probably null
R0023:Suco	UTSW	1	161,673,154 (GRCm39)	splice site	probably null
R0179:Suco	UTSW	1	161,703,874 (GRCm39)	splice site	probably benign
R0299:Suco	UTSW	1	161,681,379 (GRCm39)	missense	probably benign
R0418:Suco	UTSW	1	161,662,419 (GRCm39)	missense	probably benign	0.11
R0481:Suco	UTSW	1	161,689,882 (GRCm39)	unclassified	probably benign
R0610:Suco	UTSW	1	161,691,601 (GRCm39)	splice site	probably benign
R0610:Suco	UTSW	1	161,687,072 (GRCm39)	missense	probably benign
R0634:Suco	UTSW	1	161,666,373 (GRCm39)	missense	possibly damaging	0.77
R0645:Suco	UTSW	1	161,661,683 (GRCm39)	missense	probably damaging	1.00
R1276:Suco	UTSW	1	161,685,025 (GRCm39)	missense	probably benign	0.10
R1720:Suco	UTSW	1	161,661,623 (GRCm39)	missense	probably damaging	1.00
R1739:Suco	UTSW	1	161,655,224 (GRCm39)	critical splice donor site	probably null
R1763:Suco	UTSW	1	161,662,518 (GRCm39)	missense	possibly damaging	0.80
R1835:Suco	UTSW	1	161,687,069 (GRCm39)	nonsense	probably null
R1988:Suco	UTSW	1	161,646,380 (GRCm39)	critical splice acceptor site	probably null
R2939:Suco	UTSW	1	161,676,220 (GRCm39)	missense	probably damaging	1.00
R3773:Suco	UTSW	1	161,671,565 (GRCm39)	splice site	probably null
R4193:Suco	UTSW	1	161,691,528 (GRCm39)	missense	probably benign	0.32
R4367:Suco	UTSW	1	161,674,799 (GRCm39)	missense	probably damaging	1.00
R4397:Suco	UTSW	1	161,672,421 (GRCm39)	missense	probably damaging	1.00
R4846:Suco	UTSW	1	161,661,977 (GRCm39)	missense	possibly damaging	0.65
R4851:Suco	UTSW	1	161,661,761 (GRCm39)	missense	probably damaging	1.00
R5224:Suco	UTSW	1	161,662,274 (GRCm39)	missense	probably benign	0.06
R5329:Suco	UTSW	1	161,660,999 (GRCm39)	missense	probably damaging	0.99
R6133:Suco	UTSW	1	161,662,752 (GRCm39)	nonsense	probably null
R6632:Suco	UTSW	1	161,655,809 (GRCm39)	missense	possibly damaging	0.86
R6643:Suco	UTSW	1	161,687,001 (GRCm39)	missense	possibly damaging	0.71
R7378:Suco	UTSW	1	161,689,780 (GRCm39)	missense	possibly damaging	0.76
R7405:Suco	UTSW	1	161,655,783 (GRCm39)	missense	possibly damaging	0.65
R7509:Suco	UTSW	1	161,672,903 (GRCm39)	missense	probably damaging	1.00
R7838:Suco	UTSW	1	161,656,890 (GRCm39)	missense	probably benign	0.07
R7867:Suco	UTSW	1	161,665,365 (GRCm39)	missense	possibly damaging	0.77
R7895:Suco	UTSW	1	161,672,937 (GRCm39)	splice site	probably null
R8440:Suco	UTSW	1	161,679,907 (GRCm39)	missense	probably damaging	1.00
R8453:Suco	UTSW	1	161,650,586 (GRCm39)	intron	probably benign
R8781:Suco	UTSW	1	161,645,951 (GRCm39)	missense	probably damaging	1.00
R8798:Suco	UTSW	1	161,648,004 (GRCm39)	missense	probably damaging	1.00
R9292:Suco	UTSW	1	161,671,574 (GRCm39)	missense	probably damaging	1.00
R9310:Suco	UTSW	1	161,684,427 (GRCm39)	missense	probably damaging	1.00
R9380:Suco	UTSW	1	161,646,074 (GRCm39)	missense	possibly damaging	0.61
R9411:Suco	UTSW	1	161,666,356 (GRCm39)	missense	probably damaging	0.99
R9542:Suco	UTSW	1	161,661,668 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCAACAGAACTCTCTTGGGTC -3'
(R):5'- TGGTGCTCAGTTAGAATTGCTC -3'

Sequencing Primer
(F):5'- CAGAACTCTCTTGGGTCATCAATTG -3'
(R):5'- TCTTTATCGACAACGCAGCAGG -3'

Posted On

2015-04-30