Incidental Mutation 'IGL02863:Nomo1'
ID |
362221 |
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 # |
IGL02863
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45696340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 286
(F286S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
AlphaFold |
Q6GQT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033121
AA Change: F286S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000033121 Gene: ENSMUSG00000030835 AA Change: F286S
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,115,026 (GRCm39) |
H640L |
probably damaging |
Het |
Akr1c19 |
T |
A |
13: 4,287,112 (GRCm39) |
Y110* |
probably null |
Het |
Alk |
T |
A |
17: 72,204,830 (GRCm39) |
E1114V |
probably damaging |
Het |
Anln |
A |
T |
9: 22,287,661 (GRCm39) |
D213E |
probably damaging |
Het |
Ano9 |
T |
C |
7: 140,688,564 (GRCm39) |
N164S |
probably benign |
Het |
Arhgef9 |
G |
A |
X: 94,121,110 (GRCm39) |
R266C |
probably damaging |
Het |
Armh3 |
T |
A |
19: 45,946,850 (GRCm39) |
N256Y |
probably damaging |
Het |
Arnt2 |
C |
T |
7: 83,917,145 (GRCm39) |
R483H |
probably damaging |
Het |
Asxl3 |
A |
T |
18: 22,656,541 (GRCm39) |
N1517I |
probably benign |
Het |
Baiap3 |
C |
T |
17: 25,463,476 (GRCm39) |
|
probably benign |
Het |
Capn12 |
T |
A |
7: 28,582,581 (GRCm39) |
V152E |
probably damaging |
Het |
Casq2 |
A |
G |
3: 102,051,491 (GRCm39) |
T324A |
possibly damaging |
Het |
Cmtm7 |
T |
C |
9: 114,592,457 (GRCm39) |
T47A |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,415,677 (GRCm39) |
S2669G |
probably benign |
Het |
Dnah1 |
C |
T |
14: 31,017,250 (GRCm39) |
R1520H |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,988,671 (GRCm39) |
C3214R |
probably damaging |
Het |
Elapor2 |
C |
A |
5: 9,511,399 (GRCm39) |
C920* |
probably null |
Het |
Fbn1 |
A |
T |
2: 125,145,176 (GRCm39) |
C2688S |
possibly damaging |
Het |
Fgf13 |
A |
G |
X: 58,109,029 (GRCm39) |
V201A |
probably damaging |
Het |
Ghr |
A |
T |
15: 3,357,584 (GRCm39) |
L228* |
probably null |
Het |
Gpr22 |
A |
G |
12: 31,760,006 (GRCm39) |
C39R |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,131,534 (GRCm39) |
T274A |
possibly damaging |
Het |
Il18r1 |
T |
A |
1: 40,526,167 (GRCm39) |
L238M |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Map3k21 |
A |
T |
8: 126,654,280 (GRCm39) |
E366D |
probably benign |
Het |
Mgat4e |
C |
T |
1: 134,468,896 (GRCm39) |
E383K |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,224,446 (GRCm39) |
|
probably benign |
Het |
Myh13 |
T |
A |
11: 67,223,367 (GRCm39) |
L229Q |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,368,953 (GRCm39) |
L571Q |
probably damaging |
Het |
Ncoa1 |
T |
A |
12: 4,347,513 (GRCm39) |
M354L |
probably benign |
Het |
Ocstamp |
A |
G |
2: 165,239,428 (GRCm39) |
F253L |
probably damaging |
Het |
Or10ak9 |
T |
G |
4: 118,726,083 (GRCm39) |
I34S |
possibly damaging |
Het |
Or8j3c |
A |
G |
2: 86,253,457 (GRCm39) |
S188P |
probably benign |
Het |
Osbpl8 |
T |
C |
10: 111,120,286 (GRCm39) |
|
probably benign |
Het |
Parp4 |
T |
C |
14: 56,886,243 (GRCm39) |
L1774P |
unknown |
Het |
Paxip1 |
T |
C |
5: 27,964,393 (GRCm39) |
S729G |
probably benign |
Het |
Phlpp1 |
T |
A |
1: 106,304,027 (GRCm39) |
|
probably null |
Het |
Pkd1 |
G |
A |
17: 24,788,726 (GRCm39) |
G828D |
possibly damaging |
Het |
Ppp4r3c2 |
C |
T |
X: 88,796,429 (GRCm39) |
P87L |
possibly damaging |
Het |
Raver1 |
A |
G |
9: 20,987,267 (GRCm39) |
L670P |
probably damaging |
Het |
Rhd |
A |
G |
4: 134,612,621 (GRCm39) |
I291V |
probably damaging |
Het |
Rorb |
C |
T |
19: 18,929,617 (GRCm39) |
E377K |
probably benign |
Het |
Slc1a5 |
T |
C |
7: 16,527,646 (GRCm39) |
I314T |
probably benign |
Het |
Synj1 |
T |
C |
16: 90,758,322 (GRCm39) |
T841A |
possibly damaging |
Het |
Tenm4 |
T |
A |
7: 96,522,913 (GRCm39) |
L1448H |
probably damaging |
Het |
Tmc3 |
G |
T |
7: 83,271,494 (GRCm39) |
S882I |
probably benign |
Het |
Tmc3 |
A |
T |
7: 83,271,493 (GRCm39) |
S882C |
possibly damaging |
Het |
Tmem168 |
T |
C |
6: 13,582,917 (GRCm39) |
N271D |
probably damaging |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,973,096 (GRCm39) |
I759V |
possibly damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn2r115 |
G |
T |
17: 23,578,257 (GRCm39) |
V577F |
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 |
|
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 |
2015-12-18 |