Mutagenetix > Incidental Mutation

Incidental Mutation 'R1276:Suco'

150877

Institutional Source

Beutler Lab

Gene Symbol

Suco

Ensembl Gene

ENSMUSG00000040297

Gene Name

SUN domain containing ossification factor

Synonyms

AI848100, osteopotentia, Opt

MMRRC Submission

039342-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R1276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

161643683-161704251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 161685025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 156 (S156T)

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: S156T

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: S156T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000192570

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.2%
20x: 92.4%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	C	A	8: 27,609,852 (GRCm39)	A660D	probably damaging	Het
Ccdc82	A	T	9: 13,281,903 (GRCm39)	I443F	probably benign	Het
Cct4	C	T	11: 22,952,171 (GRCm39)	L391F	probably damaging	Het
Cep63	A	T	9: 102,466,099 (GRCm39)	D642E	possibly damaging	Het
Chd5	T	A	4: 152,463,191 (GRCm39)	L1424Q	probably damaging	Het
Cox4i1	A	G	8: 121,400,089 (GRCm39)	Y71C	probably damaging	Het
Cyp2c69	T	A	19: 39,864,668 (GRCm39)	Q270L	possibly damaging	Het
Egln2	TTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTG	7: 26,864,430 (GRCm39)		probably benign	Het
Fbln1	A	G	15: 85,113,791 (GRCm39)	D175G	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gm9847	A	G	12: 14,544,932 (GRCm39)		noncoding transcript	Het
Hdlbp	A	T	1: 93,348,823 (GRCm39)	S576T	probably benign	Het
Hmgxb3	T	C	18: 61,298,576 (GRCm39)	N296S	probably benign	Het
Lrba	T	A	3: 86,571,833 (GRCm39)	V2379E	probably damaging	Het
Lrp1b	A	T	2: 41,618,588 (GRCm39)	I162N	probably benign	Het
Mydgf	A	G	17: 56,486,362 (GRCm39)		probably null	Het
Sh3pxd2a	T	C	19: 47,256,822 (GRCm39)	D632G	probably benign	Het
Ska3	T	C	14: 58,057,726 (GRCm39)	M209V	probably damaging	Het
Slc4a10	A	G	2: 62,080,787 (GRCm39)	E308G	probably damaging	Het
Srsf4	C	T	4: 131,624,996 (GRCm39)	T131M	probably damaging	Het
Svs5	T	A	2: 164,079,168 (GRCm39)	Q246H	possibly damaging	Het
Syne2	A	G	12: 75,987,963 (GRCm39)		probably null	Het
Tbc1d9b	T	A	11: 50,043,476 (GRCm39)	H532Q	possibly damaging	Het
Tcf21	G	A	10: 22,695,489 (GRCm39)	T105I	probably damaging	Het
Thsd7a	C	A	6: 12,418,369 (GRCm39)	C620F	probably damaging	Het
Vmn1r194	A	G	13: 22,429,031 (GRCm39)	Y216C	probably damaging	Het
Vmn2r94	T	C	17: 18,477,344 (GRCm39)	S356G	possibly damaging	Het
Wasf1	T	A	10: 40,812,522 (GRCm39)	I437N	unknown	Het
Wdr24	A	G	17: 26,046,441 (GRCm39)	Y538C	probably benign	Het
Zbtb4	G	T	11: 69,667,045 (GRCm39)	D117Y	probably damaging	Het
Zfp654	A	T	16: 64,605,699 (GRCm39)	F293L	probably damaging	Het
Zkscan7	A	G	9: 122,719,788 (GRCm39)	E158G	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
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
R3882:Suco	UTSW	1	161,662,313 (GRCm39)	missense	probably benign	0.33
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'- TGGAATGAAGCTTGCACCAAACAAC -3'
(R):5'- GAAGGAACACCCATAGATCAGTCAACAG -3'

Sequencing Primer
(F):5'- atccgatgtggtagtgcag -3'
(R):5'- aacaaaaaacaacaacaacaacaac -3'

Posted On

2014-01-29