Incidental Mutation 'R4846:Suco'
| ID |
372144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suco
|
| Ensembl Gene |
ENSMUSG00000040297 |
| Gene Name |
SUN domain containing ossification factor |
| Synonyms |
AI848100, osteopotentia, Opt |
| MMRRC Submission |
042459-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.559)
|
| Stock # |
R4846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 161661977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 818
(T818I)
|
| 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: T818I
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: T818I
| 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: ENSMUST00000194106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194388
|
| Meta Mutation Damage Score |
0.0780 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,393,392 (GRCm39) |
H299L |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 8,985,180 (GRCm39) |
A687V |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,465,130 (GRCm39) |
T657A |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,248,048 (GRCm39) |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,330,490 (GRCm39) |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,476,329 (GRCm39) |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,546,974 (GRCm39) |
I12N |
probably benign |
Het |
| Ankrd55 |
A |
C |
13: 112,499,988 (GRCm39) |
E278D |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,833,125 (GRCm39) |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,931,895 (GRCm39) |
D168G |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,212,664 (GRCm39) |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,460,261 (GRCm39) |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,382,571 (GRCm39) |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,452,695 (GRCm39) |
Q159* |
probably null |
Het |
| Dennd2b |
C |
A |
7: 109,156,043 (GRCm39) |
E236* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,157,327 (GRCm39) |
S93P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,593,743 (GRCm39) |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,781,880 (GRCm39) |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,843,888 (GRCm39) |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,425,986 (GRCm39) |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,727,843 (GRCm39) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,909,682 (GRCm39) |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,190,348 (GRCm39) |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,827,890 (GRCm39) |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,711,975 (GRCm39) |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,233,798 (GRCm39) |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,309,457 (GRCm39) |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,147,009 (GRCm39) |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,928 (GRCm39) |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,584 (GRCm39) |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,892,993 (GRCm39) |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,040,362 (GRCm39) |
E566D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,005,923 (GRCm39) |
S235P |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 5,036,805 (GRCm39) |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,084,711 (GRCm39) |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,310,010 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,927,796 (GRCm39) |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,621,544 (GRCm39) |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 89,533,206 (GRCm39) |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 75,898,073 (GRCm39) |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,858,654 (GRCm39) |
S135P |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,890,047 (GRCm39) |
D591G |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,873,682 (GRCm39) |
V281M |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,424,731 (GRCm39) |
V367D |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,353,865 (GRCm39) |
L932* |
probably null |
Het |
| Trpm7 |
G |
A |
2: 126,655,105 (GRCm39) |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,490 (GRCm39) |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,459,214 (GRCm39) |
Q92R |
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 |
|
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'- AAAGGGCATCCTCTGGAGAC -3'
(R):5'- ACTGTCTAAAGTAGAAGGATCTGAG -3'
Sequencing Primer
(F):5'- GGCATCCTCTGGAGACTGTTC -3'
(R):5'- CTGAGTCTGTTAAATCTGAAGGAGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation