Incidental Mutation 'R4653:Nomo1'
ID |
351474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nomo1
|
Ensembl Gene |
ENSMUSG00000030835 |
Gene Name |
nodal modulator 1 |
Synonyms |
D7Ertd156e, Nomo, PM5 |
MMRRC Submission |
041913-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.672)
|
Stock # |
R4653 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 45711237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 639
(A639S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
AlphaFold |
Q6GQT9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033121
AA Change: A639S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000033121 Gene: ENSMUSG00000030835 AA Change: A639S
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: ENSMUST00000182531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182842
|
Meta Mutation Damage Score |
0.0728 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,264 (GRCm39) |
T351A |
probably benign |
Het |
3930402G23Rik |
A |
T |
8: 10,976,075 (GRCm39) |
|
noncoding transcript |
Het |
4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
Abca4 |
G |
T |
3: 121,932,230 (GRCm39) |
E295* |
probably null |
Het |
Abi3 |
T |
C |
11: 95,723,637 (GRCm39) |
I215V |
probably benign |
Het |
Adhfe1 |
G |
T |
1: 9,620,803 (GRCm39) |
|
probably benign |
Het |
Akr1a1 |
A |
G |
4: 116,495,156 (GRCm39) |
|
probably benign |
Het |
Ank |
T |
A |
15: 27,590,447 (GRCm39) |
W344R |
probably null |
Het |
Cast |
A |
G |
13: 74,894,133 (GRCm39) |
S171P |
probably benign |
Het |
Ccdc39 |
A |
G |
3: 33,873,955 (GRCm39) |
|
probably null |
Het |
Cd180 |
T |
A |
13: 102,841,416 (GRCm39) |
L154H |
probably damaging |
Het |
Cnp |
A |
T |
11: 100,467,342 (GRCm39) |
D95V |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,461,897 (GRCm39) |
I20T |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,050,440 (GRCm39) |
K3042R |
possibly damaging |
Het |
Dpy19l1 |
A |
C |
9: 24,393,350 (GRCm39) |
S140A |
possibly damaging |
Het |
Dpys |
C |
A |
15: 39,656,642 (GRCm39) |
R475L |
probably damaging |
Het |
Dync1i2 |
A |
G |
2: 71,078,199 (GRCm39) |
N276S |
probably damaging |
Het |
Ext2 |
T |
C |
2: 93,526,504 (GRCm39) |
S711G |
probably benign |
Het |
Fancm |
A |
G |
12: 65,129,828 (GRCm39) |
Y223C |
probably damaging |
Het |
Folh1 |
C |
A |
7: 86,393,633 (GRCm39) |
G360* |
probably null |
Het |
Garin5b |
T |
C |
7: 4,761,054 (GRCm39) |
R553G |
possibly damaging |
Het |
Gcat |
T |
C |
15: 78,919,487 (GRCm39) |
S151P |
probably damaging |
Het |
Gcm2 |
A |
T |
13: 41,256,317 (GRCm39) |
D477E |
probably benign |
Het |
Git1 |
A |
G |
11: 77,395,869 (GRCm39) |
N468S |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,273,272 (GRCm39) |
I622V |
probably benign |
Het |
Hsd17b13 |
G |
A |
5: 104,113,702 (GRCm39) |
L251F |
probably damaging |
Het |
Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
Llgl1 |
A |
G |
11: 60,599,477 (GRCm39) |
D486G |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,922,801 (GRCm39) |
I1366V |
probably benign |
Het |
Ly9 |
G |
T |
1: 171,421,597 (GRCm39) |
H441Q |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,882,511 (GRCm39) |
F514L |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,770,813 (GRCm39) |
|
probably null |
Het |
P3h2 |
T |
C |
16: 25,924,027 (GRCm39) |
D136G |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,674,654 (GRCm39) |
D87E |
probably damaging |
Het |
Pdpk1 |
A |
T |
17: 24,325,871 (GRCm39) |
D108E |
probably benign |
Het |
Pex26 |
C |
T |
6: 121,167,084 (GRCm39) |
S231L |
probably damaging |
Het |
Prpf38b |
G |
A |
3: 108,811,408 (GRCm39) |
|
probably benign |
Het |
Prpf4b |
A |
T |
13: 35,083,954 (GRCm39) |
M908L |
probably benign |
Het |
Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Ryr3 |
T |
A |
2: 112,483,108 (GRCm39) |
N4213I |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,831 (GRCm39) |
V63A |
probably damaging |
Het |
Sppl2a |
C |
T |
2: 126,762,233 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
A |
6: 48,455,580 (GRCm39) |
W3077R |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,678,769 (GRCm39) |
M230K |
probably damaging |
Het |
Sv2a |
T |
C |
3: 96,098,078 (GRCm39) |
|
probably null |
Het |
Themis2 |
A |
G |
4: 132,510,287 (GRCm39) |
S638P |
probably benign |
Het |
Trabd |
A |
G |
15: 88,970,042 (GRCm39) |
Y346C |
probably damaging |
Het |
Trim38 |
A |
T |
13: 23,966,952 (GRCm39) |
D133V |
probably damaging |
Het |
Trmt1l |
G |
A |
1: 151,315,320 (GRCm39) |
V16I |
probably benign |
Het |
Ube2b |
A |
G |
11: 51,886,199 (GRCm39) |
|
probably null |
Het |
Usp13 |
A |
T |
3: 32,892,073 (GRCm39) |
Q84L |
probably damaging |
Het |
Vmn1r172 |
G |
T |
7: 23,359,997 (GRCm39) |
G294V |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,693,228 (GRCm39) |
H457Q |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,553,114 (GRCm39) |
I714T |
possibly damaging |
Het |
Vps8 |
T |
C |
16: 21,318,960 (GRCm39) |
Y602H |
probably damaging |
Het |
Zbp1 |
G |
A |
2: 173,049,608 (GRCm39) |
P385S |
possibly 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 |
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'- TTCCCGACAATGTCAGCAC -3'
(R):5'- ACCGAGATTTCACTCAAATGCC -3'
Sequencing Primer
(F):5'- CGACAATGTCAGCACTCCTG -3'
(R):5'- CGAGATTTCACTCAAATGCCTAATC -3'
|
Posted On |
2015-10-08 |