Incidental Mutation 'R2869:Nomo1'
| ID |
266441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| MMRRC Submission |
040457-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
R2869 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45696361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 293
(T293N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033121
AA Change: T293N
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: T293N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182564
|
| Meta Mutation Damage Score |
0.3060 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
| C030034I22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
| Carmil1 |
G |
A |
13: 24,229,051 (GRCm39) |
|
silent |
Het |
| Ccl27a |
C |
T |
4: 41,769,640 (GRCm39) |
R73Q |
probably benign |
Het |
| Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
| Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
| Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Homo |
| Gbp11 |
C |
T |
5: 105,478,866 (GRCm39) |
D191N |
probably benign |
Het |
| Ggt6 |
A |
T |
11: 72,328,187 (GRCm39) |
N229I |
probably benign |
Het |
| Gm26902 |
T |
A |
19: 34,452,210 (GRCm39) |
H106L |
probably benign |
Het |
| Gm37340 |
G |
A |
2: 6,955,739 (GRCm39) |
|
probably benign |
Het |
| Gm9874 |
A |
T |
17: 30,704,763 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
| Gsdme |
A |
T |
6: 50,185,157 (GRCm39) |
C432* |
probably null |
Het |
| Habp2 |
T |
A |
19: 56,276,423 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,947,855 (GRCm39) |
L331P |
probably damaging |
Het |
| Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Homo |
| Krt13 |
A |
G |
11: 100,008,475 (GRCm39) |
S421P |
unknown |
Het |
| Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
| Lzts2 |
C |
A |
19: 45,012,534 (GRCm39) |
S321* |
probably null |
Het |
| Marchf8 |
C |
T |
6: 116,378,106 (GRCm39) |
|
probably benign |
Het |
| Meikin |
T |
C |
11: 54,264,333 (GRCm39) |
V103A |
possibly damaging |
Het |
| Mki67 |
G |
A |
7: 135,309,878 (GRCm39) |
P191L |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,388,495 (GRCm39) |
|
silent |
Het |
| Nbn |
T |
A |
4: 15,963,810 (GRCm39) |
D70E |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 49,899,405 (GRCm39) |
|
probably benign |
Het |
| Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,957,671 (GRCm39) |
I334L |
probably benign |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,811 (GRCm39) |
T288A |
probably benign |
Het |
| Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
| Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,387,702 (GRCm39) |
N300K |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
| Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
| Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
| Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Homo |
| Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
| Psmd13 |
A |
T |
7: 140,466,968 (GRCm39) |
T116S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,462,519 (GRCm39) |
|
probably null |
Het |
| Serinc2 |
A |
G |
4: 130,159,005 (GRCm39) |
S29P |
probably damaging |
Het |
| Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
| Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
| Taf6l |
A |
G |
19: 8,755,992 (GRCm39) |
|
probably benign |
Het |
| Tafa2 |
A |
T |
10: 123,540,270 (GRCm39) |
H42L |
possibly damaging |
Het |
| Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
| Tprg1 |
T |
C |
16: 25,231,590 (GRCm39) |
W189R |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,694 (GRCm39) |
D417G |
probably damaging |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
| Ybx3 |
G |
A |
6: 131,347,376 (GRCm39) |
A253V |
probably damaging |
Het |
| Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,152,481 (GRCm39) |
|
silent |
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 |
|
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 |
|
R7394:Nomo1
|
UTSW |
7 |
45,715,903 (GRCm39) |
missense |
probably benign |
0.26 |
|
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'- AACACTTAGGTTGCAAGTGGGTC -3'
(R):5'- AGTACACCTATGGTACCCCG -3'
Sequencing Primer
(F):5'- TCACAGTAGAGTGCAAGGCTTCTC -3'
(R):5'- ACTGCATGCGGTCCCATTTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation