Incidental Mutation 'R6307:Nomo1'
| ID |
509463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nomo1
|
| Ensembl Gene |
ENSMUSG00000030835 |
| Gene Name |
nodal modulator 1 |
| Synonyms |
D7Ertd156e, Nomo, PM5 |
| MMRRC Submission |
044412-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
R6307 (G1)
|
| Quality Score |
180.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45683122-45733636 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 45683260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002850]
[ENSMUST00000033121]
|
| AlphaFold |
Q6GQT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002850
|
| SMART Domains |
Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
81 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
129 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
309 |
580 |
3.5e-29 |
PFAM |
|
AAA
|
653 |
828 |
1.19e-9 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
942 |
1211 |
2.5e-32 |
PFAM |
|
AAA
|
1286 |
1473 |
1.71e-10 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000033121
AA Change: R2H
|
| SMART Domains |
Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: R2H
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,843,221 (GRCm39) |
L1232P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,351 (GRCm39) |
I1922F |
possibly damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arpc5 |
T |
C |
1: 152,647,206 (GRCm39) |
V103A |
possibly damaging |
Het |
| Atp9a |
C |
A |
2: 168,510,090 (GRCm39) |
V430F |
probably benign |
Het |
| Bod1 |
A |
G |
11: 31,616,932 (GRCm39) |
S110P |
probably damaging |
Het |
| Cacna1c |
C |
A |
6: 118,590,914 (GRCm39) |
V1453F |
probably damaging |
Het |
| Capn8 |
T |
A |
1: 182,435,264 (GRCm39) |
M414K |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,069,809 (GRCm39) |
|
probably null |
Het |
| Ccdc42 |
A |
T |
11: 68,479,106 (GRCm39) |
Q98L |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,421 (GRCm39) |
|
probably null |
Het |
| Cd200 |
C |
A |
16: 45,217,545 (GRCm39) |
V49L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,531 (GRCm39) |
S2060P |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,057,820 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Chrnb2 |
G |
T |
3: 89,668,831 (GRCm39) |
H161Q |
probably damaging |
Het |
| Ctns |
G |
A |
11: 73,082,559 (GRCm39) |
T57I |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,057,871 (GRCm39) |
F536L |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,943,826 (GRCm39) |
R275Q |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,289,990 (GRCm39) |
H2508Q |
possibly damaging |
Het |
| Elf5 |
C |
A |
2: 103,269,757 (GRCm39) |
Q113K |
probably damaging |
Het |
| Fam83a |
T |
G |
15: 57,849,507 (GRCm39) |
V17G |
possibly damaging |
Het |
| Farsa |
T |
C |
8: 85,587,674 (GRCm39) |
|
probably null |
Het |
| Fat2 |
G |
C |
11: 55,172,106 (GRCm39) |
T2869S |
possibly damaging |
Het |
| Fgg |
A |
T |
3: 82,920,283 (GRCm39) |
Q354L |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,372,517 (GRCm39) |
D679G |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,270,975 (GRCm39) |
R83* |
probably null |
Het |
| Gm17482 |
T |
A |
6: 115,204,311 (GRCm39) |
|
probably benign |
Het |
| Hmgxb4 |
T |
A |
8: 75,749,927 (GRCm39) |
V481D |
possibly damaging |
Het |
| Ifi207 |
A |
C |
1: 173,552,619 (GRCm39) |
Y926D |
probably damaging |
Het |
| Ikzf5 |
T |
A |
7: 130,993,377 (GRCm39) |
N264Y |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
| Krt33b |
A |
T |
11: 99,915,694 (GRCm39) |
C351S |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,427,944 (GRCm39) |
D543G |
probably damaging |
Het |
| Lrrfip2 |
C |
T |
9: 111,053,021 (GRCm39) |
R339W |
probably damaging |
Het |
| Mapk3 |
T |
G |
7: 126,363,454 (GRCm39) |
M276R |
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,127,827 (GRCm39) |
V137A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,558,884 (GRCm39) |
T2470A |
unknown |
Het |
| Muc4 |
C |
T |
16: 32,575,237 (GRCm39) |
S1274F |
possibly damaging |
Het |
| Myo5c |
A |
C |
9: 75,180,198 (GRCm39) |
K713T |
possibly damaging |
Het |
| Myzap |
T |
C |
9: 71,466,146 (GRCm39) |
D170G |
possibly damaging |
Het |
| Naa50 |
T |
C |
16: 43,979,831 (GRCm39) |
V113A |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,462,929 (GRCm39) |
T265A |
probably benign |
Het |
| Nin |
T |
C |
12: 70,061,631 (GRCm39) |
T2078A |
possibly damaging |
Het |
| Nprl3 |
A |
G |
11: 32,189,828 (GRCm39) |
L273P |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,136,216 (GRCm39) |
H120L |
possibly damaging |
Het |
| Or10s1 |
T |
C |
9: 39,985,824 (GRCm39) |
S78P |
probably damaging |
Het |
| Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8k21 |
T |
C |
2: 86,145,468 (GRCm39) |
H54R |
probably benign |
Het |
| Pcdhga3 |
T |
A |
18: 37,809,674 (GRCm39) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 36,837,718 (GRCm39) |
|
probably null |
Het |
| Prdm8 |
C |
T |
5: 98,333,162 (GRCm39) |
P243L |
possibly damaging |
Het |
| Prim2 |
T |
C |
1: 33,701,373 (GRCm39) |
D138G |
probably benign |
Het |
| Prl2c5 |
A |
G |
13: 13,365,175 (GRCm39) |
E107G |
probably benign |
Het |
| Prr14l |
T |
A |
5: 32,984,869 (GRCm39) |
H1542L |
probably damaging |
Het |
| Rab26 |
T |
C |
17: 24,749,072 (GRCm39) |
E203G |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,871,662 (GRCm39) |
H350L |
possibly damaging |
Het |
| Scara3 |
T |
C |
14: 66,175,710 (GRCm39) |
D19G |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
| Sdcbp |
A |
G |
4: 6,385,059 (GRCm39) |
M93V |
probably benign |
Het |
| Sema6a |
C |
A |
18: 47,382,231 (GRCm39) |
R772L |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,584,006 (GRCm39) |
K428R |
probably benign |
Het |
| Sptbn2 |
G |
A |
19: 4,774,674 (GRCm39) |
G109D |
probably damaging |
Het |
| Tmppe |
T |
C |
9: 114,233,812 (GRCm39) |
L37P |
probably benign |
Het |
| Tuba1a |
T |
C |
15: 98,849,410 (GRCm39) |
T56A |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,412,817 (GRCm39) |
I1506N |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,792,070 (GRCm39) |
I62T |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,828 (GRCm39) |
I828T |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,976 (GRCm39) |
W786R |
probably damaging |
Het |
| Zp1 |
G |
A |
19: 10,894,084 (GRCm39) |
T405M |
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 |
|
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 |
|
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'- CTGAAGTGGAAGCCTGTCTG -3'
(R):5'- CTGCAATATGGGTTGGGCAG -3'
Sequencing Primer
(F):5'- CTGGGCTGTTCCTTCCAGAG -3'
(R):5'- CAGATTAGAGTTTCGGAGGTCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation