Incidental Mutation 'R0940:Nomo1'
ID |
81406 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nomo1
|
Ensembl Gene |
ENSMUSG00000030835 |
Gene Name |
nodal modulator 1 |
Synonyms |
D7Ertd156e, Nomo, PM5 |
MMRRC Submission |
039079-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.672)
|
Stock # |
R0940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45683329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 25
(E25G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002850]
[ENSMUST00000033121]
|
AlphaFold |
Q6GQT9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002850
|
SMART Domains |
Protein: ENSMUSP00000002850 Gene: ENSMUSG00000030834
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
61 |
N/A |
INTRINSIC |
transmembrane domain
|
81 |
100 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
129 |
N/A |
INTRINSIC |
transmembrane domain
|
142 |
161 |
N/A |
INTRINSIC |
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
309 |
580 |
3.5e-29 |
PFAM |
AAA
|
653 |
828 |
1.19e-9 |
SMART |
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
942 |
1211 |
2.5e-32 |
PFAM |
AAA
|
1286 |
1473 |
1.71e-10 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033121
AA Change: E25G
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000033121 Gene: ENSMUSG00000030835 AA Change: E25G
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 |
|
Meta Mutation Damage Score |
0.0768 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
2610021A01Rik |
T |
G |
7: 41,275,858 (GRCm39) |
I520M |
probably damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,831 (GRCm39) |
F39L |
probably damaging |
Het |
Adgre5 |
C |
T |
8: 84,460,126 (GRCm39) |
S92N |
probably damaging |
Het |
Adrb2 |
T |
C |
18: 62,312,762 (GRCm39) |
D21G |
probably benign |
Het |
Akr1c6 |
G |
A |
13: 4,486,372 (GRCm39) |
E60K |
probably benign |
Het |
Bcl7c |
T |
A |
7: 127,306,503 (GRCm39) |
N96I |
possibly damaging |
Het |
Brca1 |
A |
T |
11: 101,422,969 (GRCm39) |
S106R |
possibly damaging |
Het |
C6 |
A |
T |
15: 4,764,717 (GRCm39) |
T138S |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,300,564 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
T |
A |
17: 31,022,217 (GRCm39) |
M3939K |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,681,626 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
T |
G |
18: 20,183,116 (GRCm39) |
T101P |
probably damaging |
Het |
Dynlt1b |
T |
C |
17: 6,697,649 (GRCm39) |
|
probably benign |
Het |
E330013P04Rik |
A |
G |
19: 60,150,354 (GRCm39) |
|
noncoding transcript |
Het |
Fggy |
A |
G |
4: 95,585,238 (GRCm39) |
E39G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,572,797 (GRCm39) |
V952A |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,753,795 (GRCm39) |
C116S |
probably benign |
Het |
Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
Gmps |
A |
G |
3: 63,883,743 (GRCm39) |
|
probably benign |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Hnrnpm |
G |
A |
17: 33,868,976 (GRCm39) |
R523C |
probably damaging |
Het |
Inpp5a |
T |
C |
7: 139,105,654 (GRCm39) |
Y202H |
probably damaging |
Het |
Kank3 |
C |
T |
17: 34,036,450 (GRCm39) |
S106F |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,305,658 (GRCm39) |
D253G |
probably benign |
Het |
Lrrk2 |
A |
T |
15: 91,613,284 (GRCm39) |
I803F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,500,129 (GRCm39) |
|
probably benign |
Het |
Myh4 |
A |
T |
11: 67,133,689 (GRCm39) |
N243Y |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,497,996 (GRCm39) |
Y545H |
probably damaging |
Het |
Nfatc1 |
C |
T |
18: 80,679,110 (GRCm39) |
M759I |
probably benign |
Het |
Nipal4 |
A |
G |
11: 46,041,139 (GRCm39) |
I352T |
possibly damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,020 (GRCm39) |
S255P |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,903,065 (GRCm39) |
I151T |
probably benign |
Het |
Or14j7 |
A |
G |
17: 38,234,591 (GRCm39) |
I45V |
probably damaging |
Het |
Or1e32 |
T |
C |
11: 73,705,050 (GRCm39) |
N286S |
probably damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,419 (GRCm39) |
I146L |
probably benign |
Het |
Or5p66 |
T |
C |
7: 107,886,264 (GRCm39) |
D23G |
probably benign |
Het |
Pabpn1l |
A |
G |
8: 123,349,183 (GRCm39) |
V78A |
probably benign |
Het |
Pde6b |
T |
A |
5: 108,568,203 (GRCm39) |
I327N |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,834,768 (GRCm39) |
|
probably benign |
Het |
Pkm |
C |
T |
9: 59,575,818 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
G |
A |
1: 194,482,863 (GRCm39) |
V1519I |
probably benign |
Het |
Ppp2cb |
T |
C |
8: 34,105,689 (GRCm39) |
|
probably null |
Het |
Prickle2 |
A |
G |
6: 92,387,984 (GRCm39) |
Y473H |
probably benign |
Het |
Prpf3 |
A |
G |
3: 95,751,535 (GRCm39) |
W389R |
probably damaging |
Het |
Psme4 |
G |
A |
11: 30,765,264 (GRCm39) |
E544K |
possibly damaging |
Het |
Relb |
A |
T |
7: 19,345,767 (GRCm39) |
D395E |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,307,389 (GRCm39) |
N683S |
probably benign |
Het |
Rtel1 |
T |
C |
2: 180,964,596 (GRCm39) |
C102R |
probably benign |
Het |
Sel1l3 |
C |
T |
5: 53,301,379 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
A |
G |
7: 15,878,887 (GRCm39) |
T458A |
probably benign |
Het |
Smc3 |
T |
A |
19: 53,629,340 (GRCm39) |
M931K |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,249,539 (GRCm39) |
V795A |
probably benign |
Het |
Tgm3 |
A |
G |
2: 129,854,326 (GRCm39) |
S2G |
probably benign |
Het |
Tpbpa |
T |
C |
13: 61,087,867 (GRCm39) |
T75A |
probably damaging |
Het |
Trub1 |
A |
G |
19: 57,473,495 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,328,604 (GRCm39) |
|
probably null |
Het |
Ugt2a3 |
A |
G |
5: 87,475,065 (GRCm39) |
V393A |
possibly damaging |
Het |
Vav3 |
T |
A |
3: 109,470,151 (GRCm39) |
M532K |
possibly damaging |
Het |
Zfp616 |
A |
T |
11: 73,975,850 (GRCm39) |
K706N |
probably damaging |
Het |
Zkscan1 |
T |
C |
5: 138,091,432 (GRCm39) |
F55S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTGACGATGACTCTGAAGTGGAAG -3'
(R):5'- CCAAGTTCTGCAATATGGGTTGGGC -3'
Sequencing Primer
(F):5'- ACTCTGAAGTGGAAGCCTGTC -3'
(R):5'- CAGATTAGAGTTTCGGAGGTCC -3'
|
Posted On |
2013-11-07 |