Incidental Mutation 'IGL02506:Nomo1'
| ID |
296318 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
IGL02506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45727480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1040
(I1040V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033121
AA Change: I1040V
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: I1040V
| 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: ENSMUST00000182305
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,916 (GRCm39) |
E189G |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,968,931 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
G |
T |
8: 89,044,571 (GRCm39) |
R488L |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,625,714 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
C |
T |
7: 140,682,167 (GRCm39) |
|
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,953,820 (GRCm39) |
D182G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,585,456 (GRCm39) |
V127D |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,319,955 (GRCm39) |
M1407T |
probably damaging |
Het |
| Card9 |
A |
C |
2: 26,244,427 (GRCm39) |
|
probably benign |
Het |
| Cdh5 |
A |
G |
8: 104,864,454 (GRCm39) |
N472D |
probably damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,227,379 (GRCm39) |
T343S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,990,282 (GRCm39) |
C1928S |
probably benign |
Het |
| Clk3 |
C |
T |
9: 57,661,927 (GRCm39) |
W31* |
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,595,349 (GRCm39) |
T489A |
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,826,529 (GRCm39) |
R431H |
probably damaging |
Het |
| Crmp1 |
T |
A |
5: 37,436,199 (GRCm39) |
|
probably benign |
Het |
| Cyld |
A |
G |
8: 89,456,218 (GRCm39) |
T423A |
possibly damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,198 (GRCm39) |
I84N |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,757,507 (GRCm39) |
N141D |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,055,162 (GRCm39) |
L341Q |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
| Fam227b |
T |
A |
2: 125,845,831 (GRCm39) |
Y386F |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,355,640 (GRCm39) |
T694S |
unknown |
Het |
| Gcnt2 |
T |
A |
13: 41,040,856 (GRCm39) |
V5E |
probably benign |
Het |
| Herpud1 |
G |
T |
8: 95,121,270 (GRCm39) |
E355* |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,843,144 (GRCm39) |
S752P |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,649,057 (GRCm39) |
I687V |
possibly damaging |
Het |
| Kdm5a |
T |
C |
6: 120,409,110 (GRCm39) |
S1598P |
probably damaging |
Het |
| Klk1b9 |
A |
G |
7: 43,445,063 (GRCm39) |
E185G |
probably benign |
Het |
| Myo16 |
G |
T |
8: 10,440,217 (GRCm39) |
R423L |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,100,207 (GRCm39) |
E1609G |
probably damaging |
Het |
| Nom1 |
T |
A |
5: 29,644,814 (GRCm39) |
|
probably benign |
Het |
| Or8b39 |
G |
A |
9: 37,996,741 (GRCm39) |
G203D |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,748 (GRCm39) |
V246A |
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,859,404 (GRCm39) |
D437V |
probably benign |
Het |
| Phldb1 |
G |
T |
9: 44,622,223 (GRCm39) |
D797E |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,374,132 (GRCm39) |
E1399G |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,460,198 (GRCm39) |
C97Y |
probably damaging |
Het |
| Plscr4 |
A |
T |
9: 92,372,044 (GRCm39) |
I272L |
possibly damaging |
Het |
| Prlhr |
A |
C |
19: 60,456,366 (GRCm39) |
Y67D |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,984,221 (GRCm39) |
|
probably benign |
Het |
| Rad23b |
T |
C |
4: 55,382,511 (GRCm39) |
V238A |
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,117,380 (GRCm39) |
T164A |
possibly damaging |
Het |
| Serpinh1 |
T |
A |
7: 98,996,199 (GRCm39) |
K295M |
probably damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,453,687 (GRCm39) |
E770G |
probably benign |
Het |
| Spag4 |
T |
C |
2: 155,911,142 (GRCm39) |
L390P |
probably damaging |
Het |
| Stip1 |
A |
G |
19: 7,012,857 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,380,739 (GRCm39) |
N50S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,613,443 (GRCm39) |
V433A |
possibly damaging |
Het |
| Ubap1l |
T |
A |
9: 65,276,493 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,909,738 (GRCm39) |
I572K |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,917,308 (GRCm39) |
E3717D |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,335,232 (GRCm39) |
N1778S |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,095,965 (GRCm39) |
F1162Y |
probably damaging |
Het |
| Zbtb10 |
T |
A |
3: 9,330,297 (GRCm39) |
F552I |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,891 (GRCm39) |
I811V |
probably damaging |
Het |
| Zfp663 |
A |
T |
2: 165,195,871 (GRCm39) |
V116D |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation