Mutagenetix > Incidental Mutation

Incidental Mutation 'R8453:Suco'

660763

Institutional Source

Beutler Lab

Gene Symbol

Suco

Ensembl Gene

ENSMUSG00000040297

Gene Name

SUN domain containing ossification factor

Synonyms

AI848100, Opt, osteopotentia

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R8453 (G1)

Quality Score

155.008

Status

Validated

Chromosome

Chromosomal Location

161816114-161876682 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 161823017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	A	T	5: 90,566,501	R123S	possibly damaging	Het
8030462N17Rik	T	C	18: 77,673,908	E236G	probably damaging	Het
9630041A04Rik	G	T	9: 101,938,685	C23F	possibly damaging	Het
Adam29	T	C	8: 55,873,161	H86R	possibly damaging	Het
Alas1	C	T	9: 106,236,522	R508Q	possibly damaging	Het
Bmp3	G	A	5: 98,855,423		probably null	Het
Bud13	A	G	9: 46,288,201	T287A	probably benign	Het
C3	T	C	17: 57,212,643	E1203G	probably benign	Het
Carmil2	A	C	8: 105,690,211	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,276,446	T707S	probably damaging	Het
Cfap43	A	T	19: 47,746,647	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,877,231	*590K	probably null	Het
Commd1	C	T	11: 22,978,503		probably benign	Het
Creb3l1	A	T	2: 91,990,929	Y314*	probably null	Het
Ctc1	T	A	11: 69,022,449	S90R	probably benign	Het
Dixdc1	T	C	9: 50,684,886	Q413R	probably benign	Het
Dlg5	T	C	14: 24,158,145	T998A	probably benign	Het
Fam89b	A	G	19: 5,728,875	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,290,735	I400M	probably benign	Het
Gad1	A	T	2: 70,600,713	M567L	probably benign	Het
Gemin5	T	C	11: 58,125,239	S1314G	probably benign	Het
Gm2035	C	T	12: 87,919,553	S102N	probably benign	Het
Gm9195	T	G	14: 72,440,761	I2323L	probably benign	Het
Gria1	T	A	11: 57,243,051	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,309,279	H200L	probably benign	Het
Igsf5	A	G	16: 96,421,796	Q360R	probably benign	Het
Il31ra	A	T	13: 112,524,183	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,387,820	R837G	probably damaging	Het
Lpl	A	G	8: 68,895,781	I221V	probably damaging	Het
Mcf2l	T	C	8: 12,984,956		probably null	Het
Mink1	T	A	11: 70,610,328	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,202	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,988,377	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,332,311	V460E	probably damaging	Het
Nicn1	T	A	9: 108,293,373	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,715,601	Y577C	probably damaging	Het
Nrap	T	C	19: 56,323,920	T1535A	probably damaging	Het
Opa1	G	A	16: 29,620,868	R755H	probably damaging	Het
P4htm	C	T	9: 108,580,367		probably benign	Het
Phldb2	A	G	16: 45,825,022	S354P	probably benign	Het
Phykpl	T	C	11: 51,598,294	S316P	probably damaging	Het
Pnpla1	T	A	17: 28,858,899	D11E	probably benign	Het
Pold2	A	G	11: 5,875,104	F98L	probably damaging	Het
Prph	G	A	15: 99,056,776	R241Q	probably benign	Het
Rcl1	T	C	19: 29,115,759	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,246,752	N117D	probably benign	Het
Sars	G	A	3: 108,428,713	S331L	probably benign	Het
Scfd1	A	C	12: 51,412,591	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,989,348	C363R	probably benign	Het
Senp7	A	G	16: 56,188,328	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sptbn4	A	G	7: 27,404,238	L1191P	probably damaging	Het
Ssfa2	T	C	2: 79,644,785	S363P	probably benign	Het
Stk40	A	G	4: 126,128,973	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,809,048	V536E	probably benign	Het
Tex15	G	T	8: 33,576,871	E2110*	probably null	Het
Thbs4	G	A	13: 92,790,817	P55S	probably benign	Het
Tmem115	T	C	9: 107,534,798	V107A	probably benign	Het
Tnfaip6	A	C	2: 52,055,867	I242L	probably benign	Het
Trabd	G	T	15: 89,085,413	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,487,740	I86F	probably damaging	Het
Trpc7	A	G	13: 56,822,559	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,610,887	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,561,908	D707V	probably damaging	Het
Vnn3	G	A	10: 23,869,545	R464H	probably benign	Het
Wdr27	T	C	17: 14,892,489	T652A	probably benign	Het
Wdr78	A	G	4: 103,059,916	I577T	possibly damaging	Het
Yeats2	C	T	16: 20,222,887	R1176*	probably null	Het

Other mutations in Suco

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Suco	APN	1	161834120	missense	probably damaging	1.00
IGL01688:Suco	APN	1	161863911	splice site	probably null
IGL01794:Suco	APN	1	161827725	missense	probably benign	0.01
IGL01891:Suco	APN	1	161838802	missense	probably damaging	1.00
IGL02028:Suco	APN	1	161856859	missense	possibly damaging	0.95
IGL02102:Suco	APN	1	161827705	missense	probably damaging	1.00
IGL02351:Suco	APN	1	161818626	missense	probably benign	0.35
IGL02358:Suco	APN	1	161818626	missense	probably benign	0.35
IGL02392:Suco	APN	1	161834567	missense	probably benign	0.11
IGL02638:Suco	APN	1	161827687	missense	probably damaging	1.00
IGL02650:Suco	APN	1	161848753	splice site	probably benign
IGL03106:Suco	APN	1	161834480	missense	possibly damaging	0.91
IGL03189:Suco	APN	1	161857337	unclassified	probably benign
IGL03328:Suco	APN	1	161820421	missense	probably damaging	0.99
girth	UTSW	1	161828240	missense	possibly damaging	0.86
pleasingly	UTSW	1	161834408	missense	possibly damaging	0.65
3-1:Suco	UTSW	1	161822031	intron	probably benign
H8562:Suco	UTSW	1	161852851	missense	probably damaging	1.00
H8786:Suco	UTSW	1	161852851	missense	probably damaging	1.00
R0023:Suco	UTSW	1	161845585	splice site	probably null
R0023:Suco	UTSW	1	161845585	splice site	probably null
R0179:Suco	UTSW	1	161876305	splice site	probably benign
R0299:Suco	UTSW	1	161853810	missense	probably benign
R0418:Suco	UTSW	1	161834850	missense	probably benign	0.11
R0481:Suco	UTSW	1	161862313	unclassified	probably benign
R0610:Suco	UTSW	1	161859503	missense	probably benign
R0610:Suco	UTSW	1	161864032	splice site	probably benign
R0634:Suco	UTSW	1	161838804	missense	possibly damaging	0.77
R0645:Suco	UTSW	1	161834114	missense	probably damaging	1.00
R1276:Suco	UTSW	1	161857456	missense	probably benign	0.10
R1720:Suco	UTSW	1	161834054	missense	probably damaging	1.00
R1739:Suco	UTSW	1	161827655	critical splice donor site	probably null
R1763:Suco	UTSW	1	161834949	missense	possibly damaging	0.80
R1835:Suco	UTSW	1	161859500	nonsense	probably null
R1988:Suco	UTSW	1	161818811	critical splice acceptor site	probably null
R2939:Suco	UTSW	1	161848651	missense	probably damaging	1.00
R3773:Suco	UTSW	1	161843996	splice site	probably null
R3882:Suco	UTSW	1	161834744	missense	probably benign	0.33
R4193:Suco	UTSW	1	161863959	missense	probably benign	0.32
R4367:Suco	UTSW	1	161847230	missense	probably damaging	1.00
R4397:Suco	UTSW	1	161844852	missense	probably damaging	1.00
R4846:Suco	UTSW	1	161834408	missense	possibly damaging	0.65
R4851:Suco	UTSW	1	161834192	missense	probably damaging	1.00
R5224:Suco	UTSW	1	161834705	missense	probably benign	0.06
R5329:Suco	UTSW	1	161833430	missense	probably damaging	0.99
R6133:Suco	UTSW	1	161835183	nonsense	probably null
R6632:Suco	UTSW	1	161828240	missense	possibly damaging	0.86
R6643:Suco	UTSW	1	161859432	missense	possibly damaging	0.71
R7378:Suco	UTSW	1	161862211	missense	possibly damaging	0.76
R7405:Suco	UTSW	1	161828214	missense	possibly damaging	0.65
R7509:Suco	UTSW	1	161845334	missense	probably damaging	1.00
R7838:Suco	UTSW	1	161829321	missense	probably benign	0.07
R7867:Suco	UTSW	1	161837796	missense	possibly damaging	0.77
R7895:Suco	UTSW	1	161845368	splice site	probably null
R8440:Suco	UTSW	1	161852338	missense	probably damaging	1.00
R8781:Suco	UTSW	1	161818382	missense	probably damaging	1.00
R8798:Suco	UTSW	1	161820435	missense	probably damaging	1.00
R9292:Suco	UTSW	1	161844005	missense	probably damaging	1.00
R9310:Suco	UTSW	1	161856858	missense	probably damaging	1.00
R9380:Suco	UTSW	1	161818505	missense	possibly damaging	0.61
R9411:Suco	UTSW	1	161838787	missense	probably damaging	0.99
R9542:Suco	UTSW	1	161834099	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGACTTGCTGGATCTCATC -3'
(R):5'- TGGGCTCTTAGATCTCTAGATAGG -3'

Sequencing Primer
(F):5'- GATCTCATCCAAGGCTTGTTCTTC -3'
(R):5'- TTTGGATCATTTCTTTCAGC -3'

Posted On

2021-02-03