Mutagenetix > Incidental Mutation

Incidental Mutation 'R6643:Suco'

525899

Institutional Source

Beutler Lab

Gene Symbol

Suco

Ensembl Gene

ENSMUSG00000040297

Gene Name

SUN domain containing ossification factor

Synonyms

AI848100, osteopotentia, Opt

MMRRC Submission

044764-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R6643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

161643683-161704251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 161687001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 120 (S120T)

Ref Sequence

ENSEMBL: ENSMUSP00000044815 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048377
AA Change: S120T

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: S120T

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (39/39)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,183,644 (GRCm39)	S140P	probably damaging	Het
Atp5mc1	A	C	11: 95,964,854 (GRCm39)	C17W	probably damaging	Het
Brd4	A	G	17: 32,417,470 (GRCm39)	S161P	unknown	Het
Cntrob	A	G	11: 69,202,248 (GRCm39)	V448A	possibly damaging	Het
Col22a1	T	C	15: 71,693,886 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,877,830 (GRCm39)	Y2049C	probably damaging	Het
Cpn1	C	T	19: 43,948,472 (GRCm39)	D395N	probably benign	Het
Csmd2	A	G	4: 128,266,390 (GRCm39)	T769A	probably benign	Het
Cts6	T	A	13: 61,349,607 (GRCm39)	H62L	probably damaging	Het
Ddx42	G	T	11: 106,119,646 (GRCm39)	V144F	probably benign	Het
E130308A19Rik	A	G	4: 59,720,561 (GRCm39)	S698G	possibly damaging	Het
Eif2b3	T	C	4: 116,927,954 (GRCm39)	L391P	probably damaging	Het
Gm1043	T	C	5: 37,330,895 (GRCm39)	I525T	probably benign	Het
Kifc1	C	T	17: 34,104,829 (GRCm39)	G59S	probably benign	Het
Lancl1	T	C	1: 67,043,542 (GRCm39)	E360G	probably benign	Het
Lrp4	T	C	2: 91,332,340 (GRCm39)	L1679S	probably benign	Het
Mroh9	T	A	1: 162,903,130 (GRCm39)	D91V	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Ntsr1	T	C	2: 180,142,719 (GRCm39)	I170T	probably damaging	Het
Or2ag15	T	A	7: 106,340,911 (GRCm39)	I77F	probably benign	Het
Or2ag16	A	G	7: 106,351,776 (GRCm39)	I273T	probably benign	Het
Or6n2	T	C	1: 173,897,611 (GRCm39)	L249P	probably damaging	Het
Or6z5	G	A	7: 6,477,720 (GRCm39)	D204N	probably benign	Het
Pcolce	T	A	5: 137,607,165 (GRCm39)	T109S	probably damaging	Het
Reg3b	C	A	6: 78,349,905 (GRCm39)	S148R	possibly damaging	Het
Rps6ka4	A	G	19: 6,809,731 (GRCm39)	S365P	probably damaging	Het
Slc27a4	A	G	2: 29,702,860 (GRCm39)	E563G	probably benign	Het
Slc4a10	C	T	2: 62,059,054 (GRCm39)	T187M	possibly damaging	Het
Slc5a7	G	T	17: 54,583,644 (GRCm39)	Q549K	probably benign	Het
Stxbp3	A	G	3: 108,701,150 (GRCm39)	L573P	probably damaging	Het
Tnni2	G	T	7: 141,998,016 (GRCm39)	G163V	probably damaging	Het
Ttl	T	C	2: 128,923,262 (GRCm39)	I201T	possibly damaging	Het
Vmn1r28	A	G	6: 58,242,945 (GRCm39)	T263A	probably benign	Het
Wdr1	A	T	5: 38,697,521 (GRCm39)	D262E	probably damaging	Het
Xylb	A	G	9: 119,196,559 (GRCm39)	H114R	probably damaging	Het
Ywhaz	T	C	15: 36,791,166 (GRCm39)	Y19C	probably damaging	Het
Zdbf2	A	G	1: 63,343,667 (GRCm39)	E682G	possibly 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
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
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'- AACGTAGAAATTCATGGCTAGGC -3'
(R):5'- CAGCTGTGTCTGCTAATGTATG -3'

Sequencing Primer
(F):5'- CATGGCTAGGCTATAATCTATTC -3'
(R):5'- CTGCTAATGTATGAAAATGTGCAGG -3'

Posted On

2018-06-22