Incidental Mutation 'R1601:Nomo1'
ID |
176149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nomo1
|
Ensembl Gene |
ENSMUSG00000030835 |
Gene Name |
nodal modulator 1 |
Synonyms |
D7Ertd156e, Nomo, PM5 |
MMRRC Submission |
039638-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.672)
|
Stock # |
R1601 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 45696379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Tyrosine
at position 299
(S299Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033121]
|
AlphaFold |
Q6GQT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033121
AA Change: S299Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000033121 Gene: ENSMUSG00000030835 AA Change: S299Y
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: ENSMUST00000182564
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
Adgra2 |
T |
C |
8: 27,600,046 (GRCm39) |
|
probably null |
Het |
Adgrb2 |
T |
C |
4: 129,886,630 (GRCm39) |
S257P |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,748,353 (GRCm39) |
K518E |
probably benign |
Het |
Anxa7 |
A |
T |
14: 20,514,683 (GRCm39) |
Y64* |
probably null |
Het |
Arhgef7 |
A |
G |
8: 11,832,638 (GRCm39) |
|
probably null |
Het |
Cdc42bpa |
T |
A |
1: 179,892,566 (GRCm39) |
Y243* |
probably null |
Het |
Cdk14 |
C |
T |
5: 5,185,378 (GRCm39) |
V176M |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,175,551 (GRCm39) |
E54G |
probably damaging |
Het |
Crx |
T |
C |
7: 15,601,736 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
A |
G |
2: 170,327,611 (GRCm39) |
F511L |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,457,380 (GRCm39) |
M810V |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,527,519 (GRCm39) |
T1077A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,418,303 (GRCm39) |
D2011N |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,158 (GRCm39) |
H241L |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,774,756 (GRCm39) |
K740* |
probably null |
Het |
Enah |
A |
T |
1: 181,747,185 (GRCm39) |
L523* |
probably null |
Het |
Fabp3 |
T |
C |
4: 130,202,641 (GRCm39) |
L24P |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,172,836 (GRCm39) |
S2626P |
probably benign |
Het |
Fbxo4 |
A |
G |
15: 3,998,447 (GRCm39) |
M337T |
possibly damaging |
Het |
Gas6 |
G |
T |
8: 13,515,786 (GRCm39) |
T662N |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Hrh4 |
G |
A |
18: 13,148,955 (GRCm39) |
V106I |
possibly damaging |
Het |
Ido2 |
G |
T |
8: 25,066,205 (GRCm39) |
H20Q |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,560,974 (GRCm39) |
R613L |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,452 (GRCm39) |
S836P |
probably benign |
Het |
Kcng3 |
A |
T |
17: 83,895,768 (GRCm39) |
C233S |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,941,784 (GRCm39) |
Q625R |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,055,087 (GRCm39) |
S553G |
probably benign |
Het |
Krt82 |
A |
T |
15: 101,453,588 (GRCm39) |
I266N |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,839,538 (GRCm39) |
L736Q |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,970,329 (GRCm39) |
C138R |
probably damaging |
Het |
Mcm5 |
T |
C |
8: 75,845,982 (GRCm39) |
C397R |
possibly damaging |
Het |
Me1 |
A |
C |
9: 86,560,065 (GRCm39) |
Y52D |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,575,875 (GRCm39) |
|
probably benign |
Het |
Myo18b |
G |
T |
5: 113,019,364 (GRCm39) |
Q638K |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,162,735 (GRCm39) |
L170P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,177,264 (GRCm39) |
L1359* |
probably null |
Het |
Onecut1 |
A |
T |
9: 74,769,973 (GRCm39) |
H132L |
probably benign |
Het |
Or2b2 |
C |
A |
13: 21,887,396 (GRCm39) |
T75K |
probably damaging |
Het |
Or2w3 |
A |
T |
11: 58,556,903 (GRCm39) |
R173W |
probably damaging |
Het |
Or4e2 |
A |
C |
14: 52,687,899 (GRCm39) |
T10P |
probably benign |
Het |
Or7a41 |
A |
T |
10: 78,871,338 (GRCm39) |
Y236F |
possibly damaging |
Het |
Paqr3 |
A |
G |
5: 97,259,248 (GRCm39) |
Y19H |
probably benign |
Het |
Prdx5 |
T |
C |
19: 6,884,926 (GRCm39) |
H140R |
possibly damaging |
Het |
Prox1 |
T |
C |
1: 189,893,203 (GRCm39) |
D414G |
probably damaging |
Het |
Ptprh |
T |
G |
7: 4,555,637 (GRCm39) |
E774A |
probably damaging |
Het |
Rnpepl1 |
A |
T |
1: 92,844,944 (GRCm39) |
D412V |
possibly damaging |
Het |
Sars2 |
C |
T |
7: 28,448,396 (GRCm39) |
T259M |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,939,283 (GRCm39) |
|
probably null |
Het |
Sbno2 |
C |
T |
10: 79,896,326 (GRCm39) |
R898H |
probably damaging |
Het |
Smox |
C |
A |
2: 131,362,094 (GRCm39) |
T172N |
probably damaging |
Het |
Taf7l2 |
T |
C |
10: 115,949,521 (GRCm39) |
S2G |
probably damaging |
Het |
Tdrd9 |
C |
T |
12: 111,989,687 (GRCm39) |
R341* |
probably null |
Het |
Thrap3 |
C |
G |
4: 126,073,894 (GRCm39) |
G284A |
probably damaging |
Het |
Tmtc4 |
A |
G |
14: 123,182,238 (GRCm39) |
V271A |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,202,545 (GRCm39) |
T1637A |
probably damaging |
Het |
Tspan5 |
T |
A |
3: 138,602,596 (GRCm39) |
I166N |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,642,582 (GRCm39) |
V1398A |
probably benign |
Het |
Xbp1 |
C |
T |
11: 5,471,975 (GRCm39) |
R34W |
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 |
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'- CAGCCTGTGACTCTGTAAGGTGTG -3'
(R):5'- CCCATTTCCTCCGATAGCAATGGAC -3'
Sequencing Primer
(F):5'- GACTCAGACCTGTCCATAAGGTG -3'
(R):5'- CAATGGACAGGTGCTGCTG -3'
|
Posted On |
2014-04-24 |