Incidental Mutation 'R7334:Nomo1'
| ID |
569368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| MMRRC Submission |
045371-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
R7334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45732692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1152
(S1152P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033121
AA Change: S1152P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: S1152P
| 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 |
0.1714 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,776,380 (GRCm39) |
C184S |
probably damaging |
Het |
| Acadm |
G |
T |
3: 153,644,698 (GRCm39) |
S9* |
probably null |
Het |
| Acot10 |
C |
T |
15: 20,665,629 (GRCm39) |
V371I |
possibly damaging |
Het |
| Adam8 |
T |
C |
7: 139,568,903 (GRCm39) |
E199G |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,539,696 (GRCm39) |
W762R |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,599,075 (GRCm39) |
V162E |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,618,432 (GRCm39) |
D2357G |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,254,685 (GRCm39) |
Q718K |
probably damaging |
Het |
| Arid5b |
A |
C |
10: 68,079,007 (GRCm39) |
V110G |
possibly damaging |
Het |
| Bpifb3 |
T |
A |
2: 153,761,654 (GRCm39) |
D34E |
probably damaging |
Het |
| Cacfd1 |
C |
T |
2: 26,905,558 (GRCm39) |
A85V |
possibly damaging |
Het |
| Cep57l1 |
C |
A |
10: 41,597,596 (GRCm39) |
S345I |
probably benign |
Het |
| Cibar2 |
T |
C |
8: 120,901,589 (GRCm39) |
T39A |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,542,417 (GRCm39) |
R462* |
probably null |
Het |
| Cyp26c1 |
G |
A |
19: 37,677,323 (GRCm39) |
V251I |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,110,080 (GRCm39) |
S1179P |
possibly damaging |
Het |
| Dnal1 |
T |
C |
12: 84,173,780 (GRCm39) |
L27P |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,864,180 (GRCm39) |
V1288A |
unknown |
Het |
| Elmod1 |
A |
T |
9: 53,841,508 (GRCm39) |
|
probably null |
Het |
| Epb41l5 |
T |
G |
1: 119,551,679 (GRCm39) |
K102T |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,406 (GRCm39) |
I358V |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,079,955 (GRCm39) |
I316V |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,204,839 (GRCm39) |
|
probably null |
Het |
| Gm4131 |
T |
A |
14: 62,702,356 (GRCm39) |
H204L |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,325,806 (GRCm39) |
G4278R |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,343,147 (GRCm39) |
S4558G |
possibly damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,108 (GRCm39) |
T25A |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,485,511 (GRCm39) |
E1161G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,293,235 (GRCm39) |
I5371K |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,011,529 (GRCm39) |
C1670S |
probably damaging |
Het |
| Mfsd13a |
T |
A |
19: 46,356,809 (GRCm39) |
V270E |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,311,838 (GRCm39) |
I524V |
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,728,573 (GRCm39) |
R800H |
probably benign |
Het |
| Ncald |
T |
A |
15: 37,397,524 (GRCm39) |
Y52F |
probably damaging |
Het |
| Nherf1 |
C |
T |
11: 115,054,593 (GRCm39) |
A81V |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,620,090 (GRCm39) |
F66L |
probably benign |
Het |
| Nrf1 |
T |
C |
6: 30,118,970 (GRCm39) |
L363S |
probably benign |
Het |
| Or4n4 |
C |
A |
14: 50,519,036 (GRCm39) |
V225F |
probably benign |
Het |
| Or8b12b |
A |
T |
9: 37,684,293 (GRCm39) |
I113F |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,321,886 (GRCm39) |
M300T |
possibly damaging |
Het |
| Parpbp |
T |
A |
10: 87,947,617 (GRCm39) |
N339I |
probably damaging |
Het |
| Pdlim5 |
A |
T |
3: 141,950,678 (GRCm39) |
H578Q |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,657,532 (GRCm39) |
N1009S |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,358,286 (GRCm39) |
I745M |
probably damaging |
Het |
| Pom121l12 |
C |
A |
11: 14,549,681 (GRCm39) |
T129K |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,992,687 (GRCm39) |
S130P |
probably damaging |
Het |
| Prss12 |
A |
C |
3: 123,280,780 (GRCm39) |
L488F |
probably benign |
Het |
| Psd3 |
C |
T |
8: 68,361,357 (GRCm39) |
V559I |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,631 (GRCm39) |
T364A |
probably benign |
Het |
| Shcbp1 |
A |
T |
8: 4,791,876 (GRCm39) |
M479K |
probably damaging |
Het |
| Shcbp1 |
A |
C |
8: 4,804,310 (GRCm39) |
F200C |
probably damaging |
Het |
| Slx1b |
G |
T |
7: 126,291,699 (GRCm39) |
R122S |
probably damaging |
Het |
| Spata31f1e |
G |
A |
4: 42,793,856 (GRCm39) |
T92I |
possibly damaging |
Het |
| Spidr |
A |
G |
16: 15,932,689 (GRCm39) |
|
probably null |
Het |
| St18 |
G |
A |
1: 6,872,783 (GRCm39) |
D173N |
probably benign |
Het |
| Stambpl1 |
T |
C |
19: 34,204,048 (GRCm39) |
I46T |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,007,886 (GRCm39) |
D113N |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,597,121 (GRCm39) |
V1741I |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 130,123,012 (GRCm39) |
W1544R |
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,553,283 (GRCm39) |
R1120H |
possibly damaging |
Het |
| Tinag |
A |
T |
9: 76,908,931 (GRCm39) |
C337S |
probably damaging |
Het |
| Tm4sf1 |
G |
C |
3: 57,200,510 (GRCm39) |
A64G |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,328,017 (GRCm39) |
Y572H |
unknown |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Txndc11 |
A |
G |
16: 10,946,425 (GRCm39) |
Y129H |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,742 (GRCm39) |
F974S |
possibly damaging |
Het |
| Utrn |
C |
A |
10: 12,603,753 (GRCm39) |
|
probably null |
Het |
| Vmn1r58 |
T |
A |
7: 5,414,066 (GRCm39) |
M55L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,776,658 (GRCm39) |
S336R |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,322,829 (GRCm39) |
Y424C |
unknown |
Het |
| Zfp507 |
T |
C |
7: 35,475,505 (GRCm39) |
I903V |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,150,681 (GRCm39) |
G243R |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,444 (GRCm39) |
C371S |
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 |
|
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'- TGTGCCTGAATTCCAGATCTGAG -3'
(R):5'- TAGGAATTTGCCTCGTCTCC -3'
Sequencing Primer
(F):5'- CCTGAATTCCAGATCTGAGTTTCAGG -3'
(R):5'- GAATTTGCCTCGTCTCCTCCAAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation