Incidental Mutation 'R7838:Suco'
| ID |
606081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suco
|
| Ensembl Gene |
ENSMUSG00000040297 |
| Gene Name |
SUN domain containing ossification factor |
| Synonyms |
AI848100, osteopotentia, Opt |
| MMRRC Submission |
045892-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.559)
|
| Stock # |
R7838 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 161656890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 978
(A978V)
|
| 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: A978V
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: A978V
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (64/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
A |
10: 87,042,061 (GRCm39) |
|
probably null |
Het |
| 4930522H14Rik |
G |
A |
4: 109,362,776 (GRCm39) |
A181V |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,274,549 (GRCm39) |
H587Q |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,604,393 (GRCm39) |
Y1371C |
probably benign |
Het |
| Asxl1 |
T |
C |
2: 153,238,733 (GRCm39) |
F354S |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,824,211 (GRCm39) |
I551F |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,149 (GRCm39) |
E1068G |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,403,830 (GRCm39) |
M644K |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,668,635 (GRCm39) |
V456A |
probably benign |
Het |
| Ctxn1 |
A |
G |
8: 4,308,461 (GRCm39) |
Y57H |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,211,834 (GRCm39) |
T1878A |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,561 (GRCm39) |
V117A |
probably benign |
Het |
| Dennd5a |
G |
T |
7: 109,533,196 (GRCm39) |
F191L |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
| Eif3l |
G |
A |
15: 78,973,799 (GRCm39) |
D405N |
possibly damaging |
Het |
| Espn |
T |
A |
4: 152,215,738 (GRCm39) |
D507V |
possibly damaging |
Het |
| Fam83f |
A |
T |
15: 80,576,704 (GRCm39) |
S452C |
possibly damaging |
Het |
| Fbxo22 |
A |
C |
9: 55,125,651 (GRCm39) |
E171D |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,752 (GRCm39) |
V13A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,044 (GRCm39) |
H1121R |
probably benign |
Het |
| G0s2 |
A |
T |
1: 192,955,081 (GRCm39) |
M1K |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,276,254 (GRCm39) |
|
probably null |
Het |
| Grm1 |
G |
A |
10: 10,956,096 (GRCm39) |
P63S |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,823,523 (GRCm39) |
|
probably benign |
Het |
| Hcfc1r1 |
G |
A |
17: 23,892,985 (GRCm39) |
G10D |
probably damaging |
Het |
| Hdac1-ps |
A |
C |
17: 78,799,447 (GRCm39) |
E146A |
probably damaging |
Het |
| Igsf11 |
T |
C |
16: 38,827,565 (GRCm39) |
V41A |
possibly damaging |
Het |
| Il17a |
C |
A |
1: 20,802,351 (GRCm39) |
A20E |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,499,697 (GRCm39) |
M481T |
possibly damaging |
Het |
| Krt40 |
A |
T |
11: 99,430,961 (GRCm39) |
C263S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,938,540 (GRCm39) |
V441A |
possibly damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,160,983 (GRCm39) |
E300G |
probably damaging |
Het |
| Mcoln3 |
G |
T |
3: 145,845,230 (GRCm39) |
W475C |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,796 (GRCm39) |
I30T |
probably benign |
Het |
| Mmd |
T |
A |
11: 90,158,433 (GRCm39) |
V181D |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,558 (GRCm38) |
L812* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,414,729 (GRCm39) |
D2561G |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,027,481 (GRCm39) |
E1251V |
|
Het |
| Myl12a |
G |
T |
17: 71,303,166 (GRCm39) |
N95K |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,466,872 (GRCm39) |
|
probably null |
Het |
| Myrf |
G |
A |
19: 10,196,983 (GRCm39) |
P266S |
possibly damaging |
Het |
| Ncf1 |
A |
G |
5: 134,250,949 (GRCm39) |
V330A |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,533,287 (GRCm39) |
D638G |
probably damaging |
Het |
| Nkapl |
T |
C |
13: 21,651,437 (GRCm39) |
K392R |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,293 (GRCm39) |
V192A |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,514 (GRCm39) |
C184* |
probably null |
Het |
| Or8b50 |
A |
G |
9: 38,517,708 (GRCm39) |
|
probably benign |
Het |
| Pelo |
T |
A |
13: 115,226,184 (GRCm39) |
N91I |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,395,850 (GRCm39) |
N836D |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,018,778 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
G |
A |
4: 53,517,657 (GRCm39) |
V127I |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,155,174 (GRCm39) |
T413A |
probably benign |
Het |
| Spaca7 |
C |
T |
8: 12,635,696 (GRCm39) |
P71S |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,609,637 (GRCm39) |
M1296K |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,670,002 (GRCm39) |
E494G |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,997,626 (GRCm39) |
V821A |
probably benign |
Het |
| Tg |
T |
A |
15: 66,565,112 (GRCm39) |
D1151E |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,283,384 (GRCm39) |
E1040G |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,233,655 (GRCm39) |
N79K |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Yars2 |
T |
G |
16: 16,122,385 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
A |
G |
12: 85,095,640 (GRCm39) |
I1847V |
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 |
|
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 |
|
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'- AGCTTTGAACCATCATGCTCAG -3'
(R):5'- GCAGAATAGTTCCTTTTGAGGG -3'
Sequencing Primer
(F):5'- ACCATCATGCTCAGTTACAAGCTTG -3'
(R):5'- GAGCACAATCCCAGATTCTTATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation