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 |