Incidental Mutation 'R0106:Nomo1'
ID |
63337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nomo1
|
Ensembl Gene |
ENSMUSG00000030835 |
Gene Name |
nodal modulator 1 |
Synonyms |
D7Ertd156e, Nomo, PM5 |
MMRRC Submission |
038392-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.672)
|
Stock # |
R0106 (G1)
|
Quality Score |
102 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45687056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 72
(I72T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
AlphaFold |
Q6GQT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033121
AA Change: I72T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033121 Gene: ENSMUSG00000030835 AA Change: I72T
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 |
0.4524 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
100% (84/84) |
Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730018C14Rik |
A |
T |
12: 112,381,628 (GRCm39) |
|
noncoding transcript |
Het |
Abcb9 |
T |
C |
5: 124,221,123 (GRCm39) |
N276S |
possibly damaging |
Het |
Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
Asic4 |
T |
C |
1: 75,427,771 (GRCm39) |
V99A |
probably benign |
Het |
Aspm |
C |
A |
1: 139,404,614 (GRCm39) |
Q1315K |
probably benign |
Het |
B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
Brf1 |
A |
G |
12: 112,937,083 (GRCm39) |
|
probably benign |
Het |
Card19 |
A |
C |
13: 49,361,621 (GRCm39) |
D3E |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,809,822 (GRCm39) |
F1480L |
probably damaging |
Het |
Ckap5 |
T |
C |
2: 91,408,550 (GRCm39) |
I915T |
possibly damaging |
Het |
Ckap5 |
T |
A |
2: 91,446,185 (GRCm39) |
I1836N |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
Cramp1 |
A |
G |
17: 25,191,350 (GRCm39) |
V1037A |
probably benign |
Het |
Cspg5 |
C |
A |
9: 110,075,600 (GRCm39) |
P112Q |
probably damaging |
Het |
Cyp2g1 |
T |
A |
7: 26,513,607 (GRCm39) |
I182N |
probably damaging |
Het |
Dscc1 |
C |
A |
15: 54,946,966 (GRCm39) |
C253F |
probably benign |
Het |
Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,596,528 (GRCm39) |
|
probably benign |
Het |
Firrm |
T |
C |
1: 163,810,380 (GRCm39) |
|
probably benign |
Het |
Fkbp6 |
C |
T |
5: 135,368,858 (GRCm39) |
R234Q |
probably benign |
Het |
Gda |
T |
C |
19: 21,374,920 (GRCm39) |
D332G |
probably benign |
Het |
Ggt7 |
C |
T |
2: 155,336,813 (GRCm39) |
A560T |
possibly damaging |
Het |
Glis3 |
A |
T |
19: 28,509,268 (GRCm39) |
S239T |
possibly damaging |
Het |
Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
Hsdl1 |
T |
A |
8: 120,292,517 (GRCm39) |
S254C |
probably damaging |
Het |
Igsf6 |
T |
A |
7: 120,673,677 (GRCm39) |
I18F |
probably benign |
Het |
Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,978,823 (GRCm39) |
|
probably benign |
Het |
Kif14 |
T |
C |
1: 136,407,662 (GRCm39) |
|
probably benign |
Het |
L2hgdh |
A |
T |
12: 69,752,563 (GRCm39) |
Y239* |
probably null |
Het |
Lama3 |
T |
C |
18: 12,537,039 (GRCm39) |
V228A |
probably damaging |
Het |
Lamp1 |
A |
G |
8: 13,224,550 (GRCm39) |
T405A |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
Mapk12 |
T |
C |
15: 89,017,187 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,763,480 (GRCm39) |
N205K |
probably damaging |
Het |
Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
Nat10 |
A |
G |
2: 103,587,550 (GRCm39) |
V55A |
probably damaging |
Het |
Nlrp10 |
T |
C |
7: 108,524,529 (GRCm39) |
E317G |
possibly damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,720 (GRCm39) |
I256V |
probably benign |
Het |
Or8d6 |
GC |
G |
9: 39,854,119 (GRCm39) |
|
probably null |
Het |
Pappa2 |
C |
T |
1: 158,542,547 (GRCm39) |
C1780Y |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,899,580 (GRCm39) |
M65V |
probably benign |
Het |
Plec |
C |
T |
15: 76,060,518 (GRCm39) |
E3162K |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,874,617 (GRCm39) |
|
probably benign |
Het |
Pop7 |
A |
G |
5: 137,499,911 (GRCm39) |
*141Q |
probably null |
Het |
Prss34 |
A |
T |
17: 25,517,700 (GRCm39) |
D25V |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,818,338 (GRCm39) |
|
probably benign |
Het |
Pygb |
A |
G |
2: 150,648,123 (GRCm39) |
D119G |
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,540,839 (GRCm39) |
T4A |
possibly damaging |
Het |
Rap1gap2 |
A |
G |
11: 74,326,570 (GRCm39) |
C166R |
probably benign |
Het |
Rbm28 |
C |
A |
6: 29,127,802 (GRCm39) |
V705L |
probably benign |
Het |
Rgs1 |
C |
T |
1: 144,124,287 (GRCm39) |
V50M |
probably benign |
Het |
Rgs12 |
C |
T |
5: 35,124,008 (GRCm39) |
T597I |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,018,363 (GRCm39) |
N765S |
possibly damaging |
Het |
Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
Scube2 |
A |
G |
7: 109,446,115 (GRCm39) |
|
probably benign |
Het |
Serpinb10 |
T |
A |
1: 107,474,474 (GRCm39) |
L212Q |
probably damaging |
Het |
Slc6a7 |
A |
G |
18: 61,135,295 (GRCm39) |
V411A |
probably benign |
Het |
Slco1a6 |
A |
T |
6: 142,103,116 (GRCm39) |
|
probably benign |
Het |
Smc1b |
A |
T |
15: 84,955,020 (GRCm39) |
D1077E |
probably damaging |
Het |
Srek1 |
G |
A |
13: 103,880,131 (GRCm39) |
H476Y |
unknown |
Het |
Strn3 |
A |
G |
12: 51,668,571 (GRCm39) |
V673A |
probably benign |
Het |
Tepsin |
T |
C |
11: 119,982,637 (GRCm39) |
|
probably null |
Het |
Timmdc1 |
A |
C |
16: 38,342,724 (GRCm39) |
L58R |
probably damaging |
Het |
Tmem132c |
T |
C |
5: 127,631,733 (GRCm39) |
V664A |
possibly damaging |
Het |
Tmem241 |
A |
T |
18: 12,239,066 (GRCm39) |
|
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,800,277 (GRCm39) |
D602G |
probably damaging |
Het |
Trbv15 |
T |
C |
6: 41,118,199 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
A |
T |
15: 8,049,068 (GRCm39) |
|
probably null |
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 |
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 |
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'- CAGTAATAGGTGCTCAGCTACCACG -3'
(R):5'- GGCAATATCTGGAGACACTGCCAAG -3'
Sequencing Primer
(F):5'- GCTACCACGGGCCAATAG -3'
(R):5'- TGCCAGAGACATGCAGC -3'
|
Posted On |
2013-07-30 |