Incidental Mutation 'R9049:Nomo1'
| ID |
688240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| MMRRC Submission |
068875-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
R9049 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45715597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 681
(D681G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033121
AA Change: D681G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: D681G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,115,900 (GRCm39) |
I118V |
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,628,658 (GRCm39) |
L362P |
probably damaging |
Het |
| Adam7 |
C |
A |
14: 68,762,674 (GRCm39) |
V184F |
probably benign |
Het |
| Adgre4 |
T |
C |
17: 56,092,094 (GRCm39) |
I118T |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,114,597 (GRCm39) |
L3292P |
|
Het |
| Akr1b10 |
A |
G |
6: 34,373,561 (GRCm39) |
E308G |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,208,852 (GRCm39) |
Y323C |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,914,671 (GRCm39) |
V1767A |
probably benign |
Het |
| Bpifb3 |
C |
A |
2: 153,767,810 (GRCm39) |
N294K |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,096 (GRCm39) |
N182S |
probably benign |
Het |
| C9orf72 |
A |
G |
4: 35,192,964 (GRCm39) |
I455T |
unknown |
Het |
| Camkmt |
A |
G |
17: 85,709,912 (GRCm39) |
I205M |
possibly damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,826,442 (GRCm39) |
R1091Q |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 48,015,157 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,733,143 (GRCm39) |
I122L |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,707,066 (GRCm39) |
S2623C |
unknown |
Het |
| Cpne5 |
A |
G |
17: 29,379,332 (GRCm39) |
S484P |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,705,965 (GRCm39) |
L352Q |
probably damaging |
Het |
| Dcun1d1 |
T |
C |
3: 35,951,998 (GRCm39) |
N183D |
probably benign |
Het |
| Dgkg |
A |
G |
16: 22,419,338 (GRCm39) |
V54A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,443,275 (GRCm39) |
D561E |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,119,275 (GRCm39) |
L1536R |
probably damaging |
Het |
| Gm21834 |
G |
A |
17: 58,048,826 (GRCm39) |
T130I |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,451,955 (GRCm39) |
V434E |
possibly damaging |
Het |
| Htr3a |
C |
A |
9: 48,811,087 (GRCm39) |
V459L |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,435,735 (GRCm39) |
V657A |
probably benign |
Het |
| Mdfi |
C |
A |
17: 48,135,479 (GRCm39) |
V84L |
probably damaging |
Het |
| Mdm1 |
C |
T |
10: 117,982,605 (GRCm39) |
T80M |
probably benign |
Het |
| Muc5ac |
A |
C |
7: 141,362,712 (GRCm39) |
I2008L |
unknown |
Het |
| Or10g9 |
G |
T |
9: 39,911,919 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or14j6 |
G |
A |
17: 38,214,764 (GRCm39) |
W109* |
probably null |
Het |
| Or1af1 |
C |
G |
2: 37,109,959 (GRCm39) |
H153D |
probably damaging |
Het |
| Or1p1c |
A |
G |
11: 74,161,115 (GRCm39) |
K300R |
possibly damaging |
Het |
| Or5h25 |
T |
G |
16: 58,930,763 (GRCm39) |
D70A |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,235 (GRCm39) |
E17G |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,045 (GRCm39) |
Y290C |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,819,890 (GRCm39) |
T676S |
unknown |
Het |
| Pld3 |
C |
T |
7: 27,235,293 (GRCm39) |
V312M |
possibly damaging |
Het |
| Pnisr |
T |
A |
4: 21,854,391 (GRCm39) |
W12R |
unknown |
Het |
| Polr3e |
A |
G |
7: 120,538,462 (GRCm39) |
K410R |
probably benign |
Het |
| Ppif |
G |
T |
14: 25,694,836 (GRCm39) |
V61L |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 144,000,486 (GRCm39) |
N30S |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,256,130 (GRCm39) |
L1167R |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,461,518 (GRCm39) |
|
probably benign |
Het |
| Prl3a1 |
T |
A |
13: 27,460,167 (GRCm39) |
L217H |
probably damaging |
Het |
| Prop1 |
G |
C |
11: 50,842,948 (GRCm39) |
Q80E |
probably damaging |
Het |
| Psma1 |
T |
C |
7: 113,865,764 (GRCm39) |
I214V |
probably benign |
Het |
| Ptgfr |
T |
A |
3: 151,541,404 (GRCm39) |
I35F |
probably benign |
Het |
| Rcvrn |
A |
T |
11: 67,586,568 (GRCm39) |
Y109F |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,574,646 (GRCm39) |
D525G |
possibly damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,054,863 (GRCm39) |
R835* |
probably null |
Het |
| Sqle |
T |
C |
15: 59,189,711 (GRCm39) |
F118L |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,510,418 (GRCm39) |
Y333F |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,100,090 (GRCm39) |
R95C |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
| Tmem161b |
G |
T |
13: 84,442,754 (GRCm39) |
A407S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,918,247 (GRCm39) |
D1221E |
possibly damaging |
Het |
| Tnks |
T |
C |
8: 35,308,932 (GRCm39) |
K1109R |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,992,502 (GRCm39) |
V194A |
possibly damaging |
Het |
| Ust |
G |
A |
10: 8,183,218 (GRCm39) |
Q162* |
probably null |
Het |
| Utp15 |
T |
C |
13: 98,395,778 (GRCm39) |
Y68C |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,826,224 (GRCm39) |
H3193Q |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,418,908 (GRCm39) |
Y4C |
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 |
|
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 |
|
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'- CAGACATGTATGTGCAGGTGC -3'
(R):5'- GCCCTGTAACTCATCCACCAT -3'
Sequencing Primer
(F):5'- GGTCCTGGAATCAAACCTAGGTTC -3'
(R):5'- GTAACTCATCCACCATCTCCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation