Incidental Mutation 'R8798:Suco'
| ID |
671340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suco
|
| Ensembl Gene |
ENSMUSG00000040297 |
| Gene Name |
SUN domain containing ossification factor |
| Synonyms |
AI848100, osteopotentia, Opt |
| MMRRC Submission |
068724-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R8798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 161648004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 1094
(L1094S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048377]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048377
AA Change: L1094S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: L1094S
| 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: 99.4%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
G |
A |
8: 79,937,380 (GRCm39) |
R176* |
probably null |
Het |
| 4921539E11Rik |
A |
C |
4: 103,123,574 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,797,105 (GRCm39) |
N492S |
probably benign |
Het |
| Acox1 |
T |
C |
11: 116,065,183 (GRCm39) |
Y624C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,291,335 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,258,847 (GRCm39) |
D781E |
|
Het |
| Arfgef3 |
T |
C |
10: 18,522,799 (GRCm39) |
D409G |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,414,645 (GRCm39) |
Y8N |
probably benign |
Het |
| Blnk |
A |
G |
19: 40,950,795 (GRCm39) |
Y119H |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,541,601 (GRCm39) |
L310P |
probably damaging |
Het |
| Cgas |
G |
A |
9: 78,350,348 (GRCm39) |
R5C |
probably benign |
Het |
| Cit |
T |
A |
5: 116,107,102 (GRCm39) |
L1078Q |
probably damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,675 (GRCm39) |
V18D |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,595,382 (GRCm39) |
Y1115N |
|
Het |
| Dnah9 |
A |
C |
11: 65,796,057 (GRCm39) |
V3589G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,506,037 (GRCm39) |
Y454C |
probably damaging |
Het |
| Eif3i |
A |
G |
4: 129,490,717 (GRCm39) |
V67A |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,664,886 (GRCm39) |
N200S |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,051,605 (GRCm39) |
H502R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,053,047 (GRCm39) |
Y50H |
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,727,372 (GRCm39) |
H416Y |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,424 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,725 (GRCm39) |
P252L |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,476,248 (GRCm39) |
|
probably null |
Het |
| Hgs |
T |
C |
11: 120,370,938 (GRCm39) |
V598A |
probably benign |
Het |
| Irf2 |
G |
T |
8: 47,260,349 (GRCm39) |
V94L |
probably benign |
Het |
| Kalrn |
G |
T |
16: 33,803,225 (GRCm39) |
H2675Q |
possibly damaging |
Het |
| Klhl33 |
C |
A |
14: 51,130,565 (GRCm39) |
A50S |
possibly damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,645,372 (GRCm39) |
I15T |
probably benign |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrn3 |
A |
G |
12: 41,503,174 (GRCm39) |
M381T |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,284,258 (GRCm39) |
Y395H |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,852,828 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,154,270 (GRCm39) |
F1059S |
probably benign |
Het |
| Lypd6 |
T |
A |
2: 50,078,774 (GRCm39) |
I90N |
possibly damaging |
Het |
| Map1a |
G |
A |
2: 121,132,768 (GRCm39) |
V1195M |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,978,191 (GRCm39) |
I1320F |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,569 (GRCm39) |
T1324A |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,719,772 (GRCm39) |
V562M |
possibly damaging |
Het |
| Myo15b |
G |
A |
11: 115,754,232 (GRCm39) |
G911R |
|
Het |
| Neo1 |
A |
G |
9: 58,820,449 (GRCm39) |
Y825H |
probably damaging |
Het |
| Nfat5 |
T |
G |
8: 108,074,321 (GRCm39) |
V343G |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,887 (GRCm39) |
I503K |
possibly damaging |
Het |
| Or10d5 |
G |
A |
9: 39,862,013 (GRCm39) |
T18I |
probably benign |
Het |
| Or13d1 |
C |
A |
4: 52,970,790 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,307 (GRCm39) |
D232E |
probably benign |
Het |
| Or8d2 |
G |
A |
9: 38,760,213 (GRCm39) |
E268K |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,472,947 (GRCm39) |
D7G |
probably damaging |
Het |
| Phyh |
C |
T |
2: 4,923,893 (GRCm39) |
R5C |
probably damaging |
Het |
| Prr11 |
A |
C |
11: 86,996,881 (GRCm39) |
S28A |
unknown |
Het |
| Psmd13 |
T |
A |
7: 140,477,663 (GRCm39) |
L190* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,343,716 (GRCm39) |
D322G |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,954 (GRCm39) |
L109P |
probably damaging |
Het |
| Rrp1 |
T |
C |
10: 78,245,024 (GRCm39) |
T102A |
probably damaging |
Het |
| Sema4a |
T |
G |
3: 88,344,004 (GRCm39) |
D749A |
possibly damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,702 (GRCm39) |
D188V |
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,443,137 (GRCm39) |
A570S |
probably damaging |
Het |
| Spocd1 |
G |
C |
4: 129,823,997 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,535,212 (GRCm39) |
G3823D |
probably benign |
Het |
| Tcf7 |
T |
C |
11: 52,151,421 (GRCm39) |
D79G |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,228,605 (GRCm39) |
M39T |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,209 (GRCm39) |
N321S |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,437,217 (GRCm39) |
Y235* |
probably null |
Het |
| Tnfaip6 |
T |
C |
2: 51,933,824 (GRCm39) |
F60L |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,572,620 (GRCm39) |
I411V |
probably benign |
Het |
| Trio |
A |
C |
15: 27,851,923 (GRCm39) |
V856G |
possibly damaging |
Het |
| Trpc2 |
C |
G |
7: 101,733,767 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,656,476 (GRCm39) |
V12502I |
unknown |
Het |
| Usf3 |
A |
G |
16: 44,040,536 (GRCm39) |
D1672G |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,236,436 (GRCm39) |
N1011S |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,446,519 (GRCm39) |
E756G |
probably benign |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,522 (GRCm39) |
L10P |
probably damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,353,337 (GRCm39) |
M115T |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,945,779 (GRCm39) |
H349Y |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,943,664 (GRCm39) |
N241K |
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 |
|
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 |
|
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'- ACAAGTTACCCTTTCGGCACTG -3'
(R):5'- AAGTTCAAATTCAGAGCGCACTAC -3'
Sequencing Primer
(F):5'- TTTCGGCACTGACACAATAAATGC -3'
(R):5'- AGAGCGCACTACTCTGGCTTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation