Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02102:Suco'

279795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Suco

Ensembl Gene

ENSMUSG00000040297

Gene Name

SUN domain containing ossification factor

Synonyms

AI848100, Opt, osteopotentia

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

IGL02102

Quality Score

Status

Chromosome

Chromosomal Location

161816114-161876682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 161827705 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1073 (S1073P)

Ref Sequence

ENSEMBL: ENSMUSP00000044815 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048377
AA Change: S1073P

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

SMART Domains

Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: S1073P

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: ENSMUST00000191841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192573

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,777,439	T1338A	probably benign	Het
Adcy3	G	A	12: 4,134,699	C125Y	probably damaging	Het
Aoc1	A	T	6: 48,905,962	K257N	probably damaging	Het
Apob	T	C	12: 7,989,407	V497A	possibly damaging	Het
Atp8b5	T	A	4: 43,364,167	V684D	probably benign	Het
AW551984	A	G	9: 39,589,691	W763R	probably damaging	Het
Blm	G	A	7: 80,469,756	T1026M	probably damaging	Het
Cd160	A	G	3: 96,805,570	I126T	possibly damaging	Het
Cdk14	T	C	5: 5,380,083	K15E	probably benign	Het
Cnot6l	T	C	5: 96,091,659	K261R	probably damaging	Het
Cyp3a13	T	G	5: 137,911,603	T153P	probably benign	Het
Ddx24	A	G	12: 103,408,484		probably benign	Het
Dido1	G	A	2: 180,662,247	T1288I	possibly damaging	Het
Dnajc13	A	G	9: 104,229,009	V322A	possibly damaging	Het
Dnajc25	T	A	4: 59,017,693	Y117*	probably null	Het
Dsg1a	A	G	18: 20,332,032	N427D	probably benign	Het
Gabrq	T	G	X: 72,827,545		probably null	Het
Glce	A	G	9: 62,070,601		probably benign	Het
Gm10477	T	C	X: 56,525,401	L45P	probably damaging	Het
Htt	T	A	5: 34,891,481		probably benign	Het
Ift140	A	G	17: 25,033,130	E317G	probably benign	Het
Jak1	A	G	4: 101,159,086	M827T	probably benign	Het
Kalrn	A	G	16: 34,220,222	V932A	probably damaging	Het
Mdm2	A	C	10: 117,692,717	S227R	possibly damaging	Het
Olfr1216	A	G	2: 89,013,126		probably benign	Het
Olfr153	T	C	2: 87,532,461	F143L	probably benign	Het
Olfr305	T	C	7: 86,363,866	Y157C	probably benign	Het
Olfr995	A	G	2: 85,438,267	V297A	probably damaging	Het
Olfr996	G	A	2: 85,579,673	V145I	probably damaging	Het
Pdilt	T	G	7: 119,486,950	E514A	probably benign	Het
Pepd	A	G	7: 34,945,603	D153G	probably damaging	Het
Ptgis	A	T	2: 167,225,447	V70E	probably damaging	Het
Rnf112	T	C	11: 61,452,015	K262E	probably benign	Het
Setd5	G	T	6: 113,150,985	G1300*	probably null	Het
Snx15	A	G	19: 6,122,074	L113P	possibly damaging	Het
Sptbn1	T	C	11: 30,137,427	D1004G	probably damaging	Het
Ston2	A	C	12: 91,639,724	*896G	probably null	Het
Susd1	A	C	4: 59,369,636	D344E	possibly damaging	Het
Trnt1	G	T	6: 106,778,112		probably null	Het
Ttll12	A	G	15: 83,582,063	F399S	probably damaging	Het
Vmn1r124	C	T	7: 21,260,542	V26I	probably benign	Het
Vmn1r52	T	A	6: 90,179,207	N164K	possibly damaging	Het
Vmn1r56	A	T	7: 5,196,336	M94K	possibly damaging	Het
Vmn1r80	T	C	7: 12,193,691	F243L	probably damaging	Het
Zdhhc8	G	A	16: 18,225,199	S379F	possibly damaging	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
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
R8453:Suco	UTSW	1	161823017	intron	probably benign

Posted On

2015-04-16