Incidental Mutation 'R1743:Nomo1'
| ID |
200501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| MMRRC Submission |
039775-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
R1743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 45719461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033121
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
| 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 |
probably null
Transcript: ENSMUST00000033121
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
A |
11: 53,259,522 (GRCm39) |
M11K |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,722,324 (GRCm39) |
D88G |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,170,727 (GRCm39) |
E1169G |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,496,403 (GRCm39) |
V865E |
probably damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,825,504 (GRCm39) |
Y13* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,886,751 (GRCm39) |
Q693R |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,655,770 (GRCm39) |
D520G |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,188,773 (GRCm39) |
Y770* |
probably null |
Het |
| Cenpf |
T |
C |
1: 189,386,460 (GRCm39) |
E1940G |
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,825 (GRCm39) |
V421A |
probably benign |
Het |
| Cnnm1 |
A |
T |
19: 43,460,352 (GRCm39) |
Y698F |
possibly damaging |
Het |
| Cnst |
C |
T |
1: 179,437,957 (GRCm39) |
T507I |
probably benign |
Het |
| Coq8a |
T |
C |
1: 180,009,794 (GRCm39) |
M4V |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,485,485 (GRCm39) |
L140P |
probably damaging |
Het |
| Cul2 |
A |
T |
18: 3,426,851 (GRCm39) |
I431F |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,988,625 (GRCm39) |
E3198D |
probably benign |
Het |
| Dnai3 |
C |
A |
3: 145,803,017 (GRCm39) |
R58L |
possibly damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,237 (GRCm39) |
I112F |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,560,570 (GRCm39) |
E532G |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,889,521 (GRCm39) |
V37E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,677,603 (GRCm39) |
F759S |
possibly damaging |
Het |
| Ghr |
G |
A |
15: 3,349,723 (GRCm39) |
P485L |
probably benign |
Het |
| Glipr1l2 |
G |
T |
10: 111,928,470 (GRCm39) |
V122L |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,876 (GRCm39) |
T287K |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,120 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
C |
T |
9: 15,001,364 (GRCm39) |
V254I |
probably damaging |
Het |
| Hnf4a |
C |
A |
2: 163,408,259 (GRCm39) |
Q362K |
possibly damaging |
Het |
| Kcne3 |
C |
T |
7: 99,833,631 (GRCm39) |
R83C |
probably damaging |
Het |
| Klb |
C |
A |
5: 65,533,204 (GRCm39) |
N504K |
probably damaging |
Het |
| Loxl2 |
T |
A |
14: 69,929,851 (GRCm39) |
I743N |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,502,891 (GRCm39) |
L287F |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,508 (GRCm39) |
P822L |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,950,155 (GRCm39) |
N527S |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,468,445 (GRCm39) |
P338H |
probably damaging |
Het |
| Nfkbiz |
G |
T |
16: 55,636,757 (GRCm39) |
Q515K |
possibly damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,834,149 (GRCm39) |
L263P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,015,032 (GRCm39) |
S73T |
probably benign |
Het |
| Nos3 |
G |
A |
5: 24,582,310 (GRCm39) |
G594D |
probably benign |
Het |
| Oprm1 |
A |
G |
10: 6,780,105 (GRCm39) |
I256V |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,723 (GRCm39) |
T148A |
probably benign |
Het |
| Or10n1 |
A |
T |
9: 39,524,916 (GRCm39) |
T18S |
possibly damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,620 (GRCm39) |
I150V |
probably benign |
Het |
| Oxct2a |
A |
T |
4: 123,217,309 (GRCm39) |
L24Q |
possibly damaging |
Het |
| Pcdhb14 |
T |
G |
18: 37,581,231 (GRCm39) |
S112R |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,630,329 (GRCm39) |
I1246T |
probably damaging |
Het |
| Ppil4 |
A |
T |
10: 7,683,145 (GRCm39) |
K327N |
probably damaging |
Het |
| Pramel30 |
T |
C |
4: 144,059,575 (GRCm39) |
S429P |
probably benign |
Het |
| Pstpip1 |
T |
C |
9: 56,033,214 (GRCm39) |
Y249H |
probably damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,757,511 (GRCm39) |
V369E |
probably damaging |
Het |
| Ranbp10 |
G |
T |
8: 106,506,610 (GRCm39) |
P237T |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,567,110 (GRCm39) |
N1097S |
probably damaging |
Het |
| Repin1 |
T |
A |
6: 48,574,684 (GRCm39) |
S538T |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,543,046 (GRCm39) |
M1151L |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,356,355 (GRCm39) |
D965E |
possibly damaging |
Het |
| Sdc2 |
A |
G |
15: 33,028,224 (GRCm39) |
D114G |
probably benign |
Het |
| Slc25a30 |
C |
A |
14: 76,012,523 (GRCm39) |
A42S |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Ssh2 |
T |
A |
11: 77,328,582 (GRCm39) |
F383I |
probably damaging |
Het |
| St8sia1 |
A |
T |
6: 142,774,742 (GRCm39) |
V279E |
probably damaging |
Het |
| Tacc2 |
C |
A |
7: 130,228,328 (GRCm39) |
S1690* |
probably null |
Het |
| Taf1b |
A |
G |
12: 24,597,177 (GRCm39) |
D372G |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem165 |
G |
T |
5: 76,355,673 (GRCm39) |
G272C |
probably damaging |
Het |
| Tsc22d2 |
TCAGTTAACACCTATGAACAGT |
TCAGT |
3: 58,324,960 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
C |
A |
14: 55,888,488 (GRCm39) |
A119D |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,727 (GRCm39) |
Y1941H |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,187,264 (GRCm39) |
M786K |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,991,931 (GRCm39) |
T3470K |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,448 (GRCm39) |
V479A |
probably benign |
Het |
| Zfp821 |
G |
A |
8: 110,450,796 (GRCm39) |
R263Q |
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 |
|
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 |
|
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'- TGCTGGCTATGGATTGCTGACC -3'
(R):5'- TGTTCCTGCATGAATGAACCCCAC -3'
Sequencing Primer
(F):5'- CAGATTAAAGCTGAAGACGACCAG -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation