Incidental Mutation 'R7394:Nomo1'
| ID |
573660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| MMRRC Submission |
045476-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.700)
|
| Stock # |
R7394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45715903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 757
(V757F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033121
AA Change: V757F
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: V757F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
22 |
215 |
2.35e-7 |
PROSPERO |
|
Pfam:CarboxypepD_reg
|
322 |
395 |
3.5e-12 |
PFAM |
|
Pfam:DUF2012
|
331 |
401 |
5.7e-10 |
PFAM |
|
low complexity region
|
709 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
893 |
N/A |
INTRINSIC |
|
Blast:FN3
|
913 |
1017 |
6e-22 |
BLAST |
|
low complexity region
|
1156 |
1164 |
N/A |
INTRINSIC |
|
low complexity region
|
1203 |
1214 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,445,038 (GRCm39) |
I208V |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,338,321 (GRCm39) |
I646F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,730,302 (GRCm39) |
I711L |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,821,298 (GRCm39) |
N251D |
probably damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,088,147 (GRCm39) |
T304A |
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,499,532 (GRCm39) |
T26A |
possibly damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,201 (GRCm39) |
|
probably benign |
Het |
| Ccr4 |
C |
T |
9: 114,320,994 (GRCm39) |
R357H |
probably benign |
Het |
| Cd4 |
T |
A |
6: 124,850,004 (GRCm39) |
M104L |
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,936,965 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,002,878 (GRCm39) |
Y731C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,350,790 (GRCm39) |
S114P |
not run |
Het |
| Cenpv |
T |
C |
11: 62,427,114 (GRCm39) |
D148G |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,450,334 (GRCm39) |
Y596F |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,116,079 (GRCm39) |
A122E |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,496,184 (GRCm39) |
T1602A |
probably benign |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
A |
T |
4: 96,204,677 (GRCm39) |
Y290N |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,283,155 (GRCm39) |
V554E |
probably damaging |
Het |
| Ebf2 |
T |
C |
14: 67,474,975 (GRCm39) |
V70A |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam217a |
A |
T |
13: 35,094,262 (GRCm39) |
I499K |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,860,309 (GRCm39) |
Y2118* |
probably null |
Het |
| Gm3248 |
A |
T |
14: 5,945,781 (GRCm38) |
|
probably null |
Het |
| Gm5460 |
T |
G |
14: 33,765,879 (GRCm39) |
D165E |
possibly damaging |
Het |
| Grk4 |
A |
T |
5: 34,908,962 (GRCm39) |
N490Y |
probably benign |
Het |
| Iglc2 |
T |
A |
16: 19,013,886 (GRCm39) |
K59* |
probably null |
Het |
| Iqsec3 |
T |
A |
6: 121,363,569 (GRCm39) |
H895L |
possibly damaging |
Het |
| Itgb7 |
A |
G |
15: 102,127,689 (GRCm39) |
S410P |
probably damaging |
Het |
| Kmt2d |
C |
A |
15: 98,754,265 (GRCm39) |
V1613F |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,024,256 (GRCm39) |
L118P |
|
Het |
| Lrrc25 |
A |
T |
8: 71,070,830 (GRCm39) |
S204C |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,700,010 (GRCm39) |
D619G |
unknown |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Mup17 |
G |
A |
4: 61,512,635 (GRCm39) |
S86F |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,459,257 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
C |
3: 135,319,458 (GRCm39) |
V291G |
possibly damaging |
Het |
| Nutm2 |
T |
A |
13: 50,624,043 (GRCm39) |
S247T |
probably damaging |
Het |
| Or2at1 |
C |
A |
7: 99,416,553 (GRCm39) |
H61Q |
probably damaging |
Het |
| Or4c120 |
C |
T |
2: 89,000,705 (GRCm39) |
V284I |
probably benign |
Het |
| Or4f4-ps1 |
G |
T |
2: 111,330,241 (GRCm39) |
A215S |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,123 (GRCm39) |
I209F |
probably damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,961 (GRCm39) |
I356V |
probably benign |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ppia |
T |
C |
11: 6,369,218 (GRCm39) |
S99P |
possibly damaging |
Het |
| Prss47 |
C |
T |
13: 65,192,807 (GRCm39) |
V325I |
probably benign |
Het |
| Ptgr3 |
C |
T |
18: 84,106,315 (GRCm39) |
A9V |
probably benign |
Het |
| Ptk7 |
T |
C |
17: 46,902,683 (GRCm39) |
D34G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Rasa3 |
G |
T |
8: 13,645,353 (GRCm39) |
D195E |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,100 (GRCm39) |
Y202* |
probably null |
Het |
| Sh2d1b2 |
T |
C |
1: 170,075,716 (GRCm39) |
V50A |
probably damaging |
Het |
| Slc30a4 |
C |
T |
2: 122,527,224 (GRCm39) |
V390I |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,510,109 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
A |
12: 81,260,832 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
G |
A |
8: 106,991,642 (GRCm39) |
R304W |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,218,780 (GRCm39) |
S490P |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,134,000 (GRCm39) |
M887R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,449 (GRCm39) |
T137A |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,656,945 (GRCm39) |
Q367* |
probably null |
Het |
| Uroc1 |
C |
T |
6: 90,322,315 (GRCm39) |
R280C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,613 (GRCm39) |
I4325T |
possibly damaging |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,173 (GRCm39) |
I201T |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,596,411 (GRCm39) |
M626K |
probably damaging |
Het |
|
| Other mutations in Nomo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Nomo1
|
APN |
7 |
45,694,760 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL00811:Nomo1
|
APN |
7 |
45,732,732 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01710:Nomo1
|
APN |
7 |
45,687,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01797:Nomo1
|
APN |
7 |
45,706,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01973:Nomo1
|
APN |
7 |
45,732,651 (GRCm39) |
splice site |
probably benign |
|
|
IGL02506:Nomo1
|
APN |
7 |
45,727,480 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02739:Nomo1
|
APN |
7 |
45,693,731 (GRCm39) |
splice site |
probably null |
|
|
IGL02863:Nomo1
|
APN |
7 |
45,696,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0005:Nomo1
|
UTSW |
7 |
45,686,981 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4243001:Nomo1
|
UTSW |
7 |
45,693,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Nomo1
|
UTSW |
7 |
45,687,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Nomo1
|
UTSW |
7 |
45,687,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Nomo1
|
UTSW |
7 |
45,732,652 (GRCm39) |
splice site |
probably benign |
|
|
R0239:Nomo1
|
UTSW |
7 |
45,729,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0239:Nomo1
|
UTSW |
7 |
45,729,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0417:Nomo1
|
UTSW |
7 |
45,718,122 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0467:Nomo1
|
UTSW |
7 |
45,721,911 (GRCm39) |
splice site |
probably null |
|
|
R0535:Nomo1
|
UTSW |
7 |
45,721,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0829:Nomo1
|
UTSW |
7 |
45,725,596 (GRCm39) |
splice site |
probably benign |
|
|
R0940:Nomo1
|
UTSW |
7 |
45,683,329 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1480:Nomo1
|
UTSW |
7 |
45,710,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1601:Nomo1
|
UTSW |
7 |
45,696,379 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1743:Nomo1
|
UTSW |
7 |
45,719,461 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1765:Nomo1
|
UTSW |
7 |
45,715,717 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1861:Nomo1
|
UTSW |
7 |
45,727,525 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1998:Nomo1
|
UTSW |
7 |
45,683,368 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1999:Nomo1
|
UTSW |
7 |
45,706,151 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2145:Nomo1
|
UTSW |
7 |
45,715,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Nomo1
|
UTSW |
7 |
45,696,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2869:Nomo1
|
UTSW |
7 |
45,696,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2870:Nomo1
|
UTSW |
7 |
45,696,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2870:Nomo1
|
UTSW |
7 |
45,696,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2871:Nomo1
|
UTSW |
7 |
45,696,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2871:Nomo1
|
UTSW |
7 |
45,696,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2873:Nomo1
|
UTSW |
7 |
45,696,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4116:Nomo1
|
UTSW |
7 |
45,683,320 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4404:Nomo1
|
UTSW |
7 |
45,706,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4406:Nomo1
|
UTSW |
7 |
45,706,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4560:Nomo1
|
UTSW |
7 |
45,690,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4633:Nomo1
|
UTSW |
7 |
45,699,684 (GRCm39) |
splice site |
probably benign |
|
|
R4651:Nomo1
|
UTSW |
7 |
45,717,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4653:Nomo1
|
UTSW |
7 |
45,711,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4752:Nomo1
|
UTSW |
7 |
45,706,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Nomo1
|
UTSW |
7 |
45,693,643 (GRCm39) |
splice site |
probably null |
|
|
R4838:Nomo1
|
UTSW |
7 |
45,733,139 (GRCm39) |
missense |
unknown |
|
|
R4876:Nomo1
|
UTSW |
7 |
45,715,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Nomo1
|
UTSW |
7 |
45,693,656 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4953:Nomo1
|
UTSW |
7 |
45,700,155 (GRCm39) |
intron |
probably benign |
|
|
R5463:Nomo1
|
UTSW |
7 |
45,712,426 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5664:Nomo1
|
UTSW |
7 |
45,725,581 (GRCm39) |
missense |
probably benign |
|
|
R5956:Nomo1
|
UTSW |
7 |
45,692,037 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6037:Nomo1
|
UTSW |
7 |
45,712,423 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6037:Nomo1
|
UTSW |
7 |
45,712,423 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6307:Nomo1
|
UTSW |
7 |
45,683,260 (GRCm39) |
unclassified |
probably benign |
|
|
R6695:Nomo1
|
UTSW |
7 |
45,715,885 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6970:Nomo1
|
UTSW |
7 |
45,695,391 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7334:Nomo1
|
UTSW |
7 |
45,732,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Nomo1
|
UTSW |
7 |
45,715,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Nomo1
|
UTSW |
7 |
45,706,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7979:Nomo1
|
UTSW |
7 |
45,690,986 (GRCm39) |
missense |
probably null |
|
|
R8193:Nomo1
|
UTSW |
7 |
45,692,037 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8841:Nomo1
|
UTSW |
7 |
45,707,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Nomo1
|
UTSW |
7 |
45,722,004 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9049:Nomo1
|
UTSW |
7 |
45,715,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9087:Nomo1
|
UTSW |
7 |
45,732,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9176:Nomo1
|
UTSW |
7 |
45,730,828 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Nomo1
|
UTSW |
7 |
45,715,697 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAAGTCTGCACAGGAG -3'
(R):5'- CAAAGAGGCTTTTGGGTGGC -3'
Sequencing Primer
(F):5'- CAGCTGGCAGAGATCGAGACTC -3'
(R):5'- CTTGCAGACATGGCTGCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation