Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Suco'

205132

Institutional Source

Beutler Lab

Gene Symbol

Suco

Ensembl Gene

ENSMUSG00000040297

Gene Name

SUN domain containing ossification factor

Synonyms

AI848100, Opt, osteopotentia

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

161816114-161876682 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 161859500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 97 (L97*)

Ref Sequence

ENSEMBL: ENSMUSP00000044815 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000048377
AA Change: L97*

SMART Domains

Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: L97*

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

probably benign
Transcript: ENSMUST00000191975

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	T	11: 78,287,750	V1993F	probably damaging	Het
4933425L06Rik	C	A	13: 105,082,194	A12E	unknown	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Apc	T	A	18: 34,317,077	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357		probably null	Het
Cacna1h	C	A	17: 25,392,076	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609		probably benign	Het
Cep192	T	A	18: 67,804,424	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868	T143A	possibly damaging	Het
Eps8	T	A	6: 137,522,279	K204*	probably null	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Ergic2	T	A	6: 148,189,581	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816		probably null	Het
Mical1	T	C	10: 41,483,535	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,589,946	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178	C408*	probably null	Het
Myh6	T	C	14: 54,957,401	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,483,651	S480A	probably damaging	Het
Pum1	T	C	4: 130,701,048	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,265,925	I9V	probably benign	Het
Ryr2	T	C	13: 11,769,878	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843	N365I	probably damaging	Het
Sec16b	A	G	1: 157,531,312	H105R	probably benign	Het
Sez6	T	C	11: 77,953,503	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340	T991I	probably damaging	Het
Tab1	C	A	15: 80,148,296	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988		probably null	Het
Trmo	T	C	4: 46,380,158	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235	K155I	probably benign	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
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
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'- CAACGTAGAAATTCATGGCTAGGC -3'
(R):5'- CCTGATACAGCTGTGTCTGC -3'

Sequencing Primer
(F):5'- AATTTGCTGTGTTTGCTCCTC -3'
(R):5'- CCTGATACAGCTGTGTCTGCTAATG -3'

Posted On

2014-06-23