Incidental Mutation 'R8841:Nomo1'
| ID |
674415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| MMRRC Submission |
068732-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.700)
|
| Stock # |
R8841 (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 A
at 45707911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 573
(S573T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033121
AA Change: S573T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: S573T
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,143,925 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
C |
T |
16: 93,701,908 (GRCm39) |
T510I |
probably benign |
Het |
| Chrd |
T |
A |
16: 20,554,487 (GRCm39) |
|
probably benign |
Het |
| Dennd2d |
A |
G |
3: 106,393,580 (GRCm39) |
Q11R |
probably benign |
Het |
| Dmrta1 |
A |
C |
4: 89,579,950 (GRCm39) |
R303S |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,264,768 (GRCm39) |
I543T |
possibly damaging |
Het |
| Fbxw2 |
G |
A |
2: 34,712,844 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,992,181 (GRCm39) |
V505A |
unknown |
Het |
| Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,972 (GRCm39) |
V773A |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,794,426 (GRCm39) |
E298G |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,653,555 (GRCm39) |
P77T |
probably damaging |
Het |
| Gpam |
C |
A |
19: 55,066,950 (GRCm39) |
D522Y |
probably damaging |
Het |
| Hpgd |
T |
A |
8: 56,760,709 (GRCm39) |
N135K |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,550,789 (GRCm39) |
R437W |
probably damaging |
Het |
| Kif1c |
G |
A |
11: 70,615,659 (GRCm39) |
V588I |
probably benign |
Het |
| Klhdc4 |
T |
A |
8: 122,523,380 (GRCm39) |
E554V |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,754,970 (GRCm39) |
D82G |
probably benign |
Het |
| Lin7a |
A |
G |
10: 107,218,524 (GRCm39) |
R145G |
possibly damaging |
Het |
| Lmna |
A |
G |
3: 88,391,920 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,628,188 (GRCm39) |
V178A |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,152,037 (GRCm39) |
R647G |
possibly damaging |
Het |
| Mapt |
A |
G |
11: 104,201,203 (GRCm39) |
E153G |
probably damaging |
Het |
| Mefv |
C |
T |
16: 3,528,842 (GRCm39) |
C563Y |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,097,490 (GRCm39) |
N1792S |
probably benign |
Het |
| Nkx6-3 |
C |
T |
8: 23,646,274 (GRCm39) |
T148M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,005,841 (GRCm39) |
R507S |
probably damaging |
Het |
| Or2v2 |
A |
C |
11: 49,003,938 (GRCm39) |
I205S |
probably benign |
Het |
| Or4k15 |
T |
A |
14: 50,364,666 (GRCm39) |
F211I |
probably damaging |
Het |
| Or52e5 |
T |
A |
7: 104,719,479 (GRCm39) |
N268K |
possibly damaging |
Het |
| Or6c200-ps1 |
A |
G |
10: 128,870,042 (GRCm39) |
V223A |
probably benign |
Het |
| Or7e168 |
A |
T |
9: 19,719,885 (GRCm39) |
R90S |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,905,879 (GRCm39) |
M284T |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,699 (GRCm39) |
I126V |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,092,884 (GRCm39) |
|
probably null |
Het |
| Pign |
T |
C |
1: 105,485,634 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
A |
G |
4: 156,316,655 (GRCm39) |
L342P |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,476,407 (GRCm39) |
A49V |
probably benign |
Het |
| Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
| Ralgps1 |
A |
C |
2: 33,045,329 (GRCm39) |
F406L |
probably benign |
Het |
| Rexo5 |
G |
A |
7: 119,448,011 (GRCm39) |
S752N |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,537 (GRCm39) |
I483L |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,156,466 (GRCm39) |
D481V |
probably benign |
Het |
| Scnn1a |
T |
C |
6: 125,320,208 (GRCm39) |
I554T |
probably damaging |
Het |
| Shc2 |
A |
G |
10: 79,458,150 (GRCm39) |
V511A |
probably damaging |
Het |
| Slc18a2 |
C |
T |
19: 59,261,713 (GRCm39) |
S200F |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,845 (GRCm39) |
D208G |
probably damaging |
Het |
| Smok3c |
C |
A |
5: 138,063,537 (GRCm39) |
D341E |
probably damaging |
Het |
| Tfcp2 |
A |
G |
15: 100,410,989 (GRCm39) |
I373T |
probably damaging |
Het |
| Tnpo3 |
T |
A |
6: 29,589,182 (GRCm39) |
D56V |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,781,021 (GRCm39) |
Y3261N |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,465,993 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,033,804 (GRCm39) |
C612R |
probably damaging |
Het |
| Ush1g |
G |
T |
11: 115,210,007 (GRCm39) |
D62E |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,299 (GRCm39) |
N331S |
|
Het |
| Vmn2r4 |
T |
C |
3: 64,314,058 (GRCm39) |
I308V |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,184,702 (GRCm39) |
V400E |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,235,916 (GRCm39) |
D1129G |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,206,971 (GRCm39) |
Q1101K |
probably damaging |
Het |
| Wfdc17 |
G |
T |
11: 83,594,938 (GRCm39) |
L7F |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,835,413 (GRCm39) |
K636R |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,454,936 (GRCm39) |
T1367S |
unknown |
Het |
| Zfp691 |
A |
T |
4: 119,027,861 (GRCm39) |
S124T |
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 |
|
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'- ACTCCTCTGCAGCTAGCTAG -3'
(R):5'- TACACTCTTGCTGTGCCAG -3'
Sequencing Primer
(F):5'- TAGCTAGCAGGTCCCCAGTTG -3'
(R):5'- TGCCAGGCTCCAGCAATTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation