Incidental Mutation 'R7886:Numa1'
| ID |
609063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Numa1
|
| Ensembl Gene |
ENSMUSG00000066306 |
| Gene Name |
nuclear mitotic apparatus protein 1 |
| Synonyms |
6720401E04Rik, NuMA |
| MMRRC Submission |
045938-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101583318-101664171 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101663072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 2066
(T2066I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084852]
[ENSMUST00000094134]
[ENSMUST00000163183]
[ENSMUST00000209368]
[ENSMUST00000209844]
[ENSMUST00000211502]
|
| AlphaFold |
E9Q7G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084852
AA Change: T2066I
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: T2066I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
coiled coil region
|
211 |
249 |
N/A |
INTRINSIC |
|
coiled coil region
|
274 |
818 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
869 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
910 |
933 |
6.03e-6 |
PROSPERO |
|
internal_repeat_2
|
911 |
951 |
2.35e-5 |
PROSPERO |
|
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1081 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
1094 |
1116 |
4.63e-5 |
PROSPERO |
|
low complexity region
|
1130 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1233 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1289 |
N/A |
INTRINSIC |
|
low complexity region
|
1364 |
1374 |
N/A |
INTRINSIC |
|
coiled coil region
|
1464 |
1681 |
N/A |
INTRINSIC |
|
low complexity region
|
1700 |
1711 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1718 |
1755 |
4.63e-5 |
PROSPERO |
|
internal_repeat_4
|
1777 |
1819 |
4.63e-5 |
PROSPERO |
|
internal_repeat_3
|
1800 |
1842 |
4.63e-5 |
PROSPERO |
|
internal_repeat_4
|
1811 |
1854 |
4.63e-5 |
PROSPERO |
|
low complexity region
|
1859 |
1875 |
N/A |
INTRINSIC |
|
PDB:3RO2|B
|
1881 |
1908 |
3e-13 |
PDB |
|
internal_repeat_2
|
1938 |
1977 |
2.35e-5 |
PROSPERO |
|
internal_repeat_5
|
1973 |
1995 |
4.63e-5 |
PROSPERO |
|
internal_repeat_1
|
2020 |
2043 |
6.03e-6 |
PROSPERO |
|
low complexity region
|
2073 |
2085 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094134
|
| SMART Domains |
Protein: ENSMUSP00000091685
Gene: ENSMUSG00000070427
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Blast:IG
|
66 |
170 |
7e-54 |
BLAST |
|
PDB:4EKX|A
|
71 |
167 |
6e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163183
AA Change: T713I
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306
AA Change: T713I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
164 |
290 |
7e-3 |
SMART |
|
low complexity region
|
347 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
522 |
N/A |
INTRINSIC |
|
PDB:3RO2|B
|
528 |
555 |
2e-10 |
PDB |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209844
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211502
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out or hypomorphic allele exhibit embryonic lethality by E9.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(97) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(94)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
G |
6: 92,811,437 (GRCm39) |
I130S |
unknown |
Het |
| Ano5 |
A |
G |
7: 51,220,141 (GRCm39) |
H427R |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,989,532 (GRCm39) |
V182E |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,002,923 (GRCm39) |
Y147H |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,289 (GRCm39) |
S349G |
possibly damaging |
Het |
| Ccdc51 |
G |
T |
9: 108,920,655 (GRCm39) |
A181S |
probably damaging |
Het |
| Dcc |
G |
A |
18: 72,087,939 (GRCm39) |
Q100* |
probably null |
Het |
| Dchs2 |
A |
T |
3: 83,212,392 (GRCm39) |
I2064F |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,221,706 (GRCm39) |
V217I |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,492,629 (GRCm39) |
F31I |
probably benign |
Het |
| Eftud2 |
C |
T |
11: 102,730,934 (GRCm39) |
R825H |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
| Fdx2 |
A |
T |
9: 20,984,623 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,934,643 (GRCm39) |
D106G |
possibly damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,374,229 (GRCm39) |
R446W |
probably damaging |
Het |
| Get1 |
T |
A |
16: 95,946,768 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,572 (GRCm39) |
E362G |
|
Het |
| Hmcn1 |
A |
T |
1: 150,533,221 (GRCm39) |
I3022N |
possibly damaging |
Het |
| Ifna2 |
C |
A |
4: 88,601,506 (GRCm39) |
V171F |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,235,748 (GRCm39) |
N1478D |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,077,045 (GRCm39) |
D282E |
probably damaging |
Het |
| Klhdc2 |
G |
A |
12: 69,351,406 (GRCm39) |
|
probably null |
Het |
| Macrod2 |
G |
A |
2: 141,566,565 (GRCm39) |
G188S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,843,128 (GRCm39) |
F186L |
possibly damaging |
Het |
| Mettl21a |
T |
C |
1: 64,654,343 (GRCm39) |
E58G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,497,278 (GRCm39) |
C6625S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,382,689 (GRCm39) |
S7T |
probably benign |
Het |
| Nfs1 |
T |
A |
2: 155,983,981 (GRCm39) |
D132V |
unknown |
Het |
| Nlgn1 |
T |
C |
3: 25,490,071 (GRCm39) |
D552G |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,576 (GRCm39) |
S268P |
possibly damaging |
Het |
| Or2t48 |
C |
A |
11: 58,419,880 (GRCm39) |
V311L |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,021 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,657 (GRCm39) |
Y217C |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,202 (GRCm39) |
|
probably null |
Het |
| Pde11a |
C |
T |
2: 76,121,547 (GRCm39) |
V345I |
probably benign |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,735 (GRCm39) |
S98P |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,452,641 (GRCm39) |
Q643* |
probably null |
Het |
| Pold2 |
T |
C |
11: 5,822,714 (GRCm39) |
Y402C |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,848 (GRCm39) |
T770A |
unknown |
Het |
| Pou4f1 |
A |
T |
14: 104,704,228 (GRCm39) |
V68E |
probably damaging |
Het |
| Ppfia1 |
G |
T |
7: 144,073,020 (GRCm39) |
Q265K |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,253,130 (GRCm39) |
|
probably null |
Het |
| Rdh19 |
A |
G |
10: 127,686,169 (GRCm39) |
T94A |
probably benign |
Het |
| Scgb1b12 |
A |
G |
7: 32,033,922 (GRCm39) |
T61A |
probably damaging |
Het |
| Sirpb1c |
C |
T |
3: 15,886,366 (GRCm39) |
A337T |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,009,746 (GRCm39) |
E381G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,720,288 (GRCm39) |
I1304V |
probably damaging |
Het |
| Tpmt |
C |
A |
13: 47,193,638 (GRCm39) |
G54C |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,659 (GRCm39) |
Q905L |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,490 (GRCm39) |
N136K |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,108,733 (GRCm39) |
E138K |
probably benign |
Het |
| Zbed3 |
A |
G |
13: 95,472,633 (GRCm39) |
D19G |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,439,868 (GRCm39) |
K184R |
possibly damaging |
Het |
|
| Other mutations in Numa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Numa1
|
APN |
7 |
101,662,493 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00819:Numa1
|
APN |
7 |
101,641,917 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01103:Numa1
|
APN |
7 |
101,650,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01153:Numa1
|
APN |
7 |
101,643,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Numa1
|
APN |
7 |
101,645,300 (GRCm39) |
nonsense |
probably null |
|
|
IGL02114:Numa1
|
APN |
7 |
101,661,083 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02245:Numa1
|
APN |
7 |
101,649,601 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02259:Numa1
|
APN |
7 |
101,636,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02313:Numa1
|
APN |
7 |
101,649,439 (GRCm39) |
nonsense |
probably null |
|
|
IGL02316:Numa1
|
APN |
7 |
101,650,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02386:Numa1
|
APN |
7 |
101,656,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02517:Numa1
|
APN |
7 |
101,661,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02529:Numa1
|
APN |
7 |
101,649,160 (GRCm39) |
splice site |
probably null |
|
|
IGL02664:Numa1
|
APN |
7 |
101,648,109 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02721:Numa1
|
APN |
7 |
101,649,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02816:Numa1
|
APN |
7 |
101,645,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:Numa1
|
APN |
7 |
101,649,874 (GRCm39) |
nonsense |
probably null |
|
|
meltdown
|
UTSW |
7 |
101,639,778 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
1mM(1):Numa1
|
UTSW |
7 |
101,643,922 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4651001:Numa1
|
UTSW |
7 |
101,663,141 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0047:Numa1
|
UTSW |
7 |
101,658,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Numa1
|
UTSW |
7 |
101,658,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0548:Numa1
|
UTSW |
7 |
101,644,731 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0554:Numa1
|
UTSW |
7 |
101,644,731 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0592:Numa1
|
UTSW |
7 |
101,663,104 (GRCm39) |
missense |
probably benign |
|
|
R0669:Numa1
|
UTSW |
7 |
101,648,884 (GRCm39) |
missense |
probably benign |
|
|
R0856:Numa1
|
UTSW |
7 |
101,648,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1072:Numa1
|
UTSW |
7 |
101,650,357 (GRCm39) |
splice site |
probably null |
|
|
R1776:Numa1
|
UTSW |
7 |
101,660,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Numa1
|
UTSW |
7 |
101,641,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1969:Numa1
|
UTSW |
7 |
101,658,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1970:Numa1
|
UTSW |
7 |
101,658,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1971:Numa1
|
UTSW |
7 |
101,658,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2180:Numa1
|
UTSW |
7 |
101,649,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Numa1
|
UTSW |
7 |
101,649,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2257:Numa1
|
UTSW |
7 |
101,649,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2508:Numa1
|
UTSW |
7 |
101,644,731 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2958:Numa1
|
UTSW |
7 |
101,658,702 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4210:Numa1
|
UTSW |
7 |
101,658,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Numa1
|
UTSW |
7 |
101,658,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:Numa1
|
UTSW |
7 |
101,649,872 (GRCm39) |
splice site |
probably null |
|
|
R4783:Numa1
|
UTSW |
7 |
101,662,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Numa1
|
UTSW |
7 |
101,645,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Numa1
|
UTSW |
7 |
101,662,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Numa1
|
UTSW |
7 |
101,660,064 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4981:Numa1
|
UTSW |
7 |
101,641,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Numa1
|
UTSW |
7 |
101,626,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5122:Numa1
|
UTSW |
7 |
101,662,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Numa1
|
UTSW |
7 |
101,649,188 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5230:Numa1
|
UTSW |
7 |
101,644,731 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5547:Numa1
|
UTSW |
7 |
101,663,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Numa1
|
UTSW |
7 |
101,658,494 (GRCm39) |
splice site |
probably null |
|
|
R6006:Numa1
|
UTSW |
7 |
101,641,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6031:Numa1
|
UTSW |
7 |
101,661,219 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6031:Numa1
|
UTSW |
7 |
101,661,219 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6295:Numa1
|
UTSW |
7 |
101,649,974 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6322:Numa1
|
UTSW |
7 |
101,650,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6413:Numa1
|
UTSW |
7 |
101,639,778 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6786:Numa1
|
UTSW |
7 |
101,641,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7218:Numa1
|
UTSW |
7 |
101,650,117 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7312:Numa1
|
UTSW |
7 |
101,639,806 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7374:Numa1
|
UTSW |
7 |
101,658,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7626:Numa1
|
UTSW |
7 |
101,648,630 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7769:Numa1
|
UTSW |
7 |
101,648,207 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7830:Numa1
|
UTSW |
7 |
101,648,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7935:Numa1
|
UTSW |
7 |
101,651,538 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8134:Numa1
|
UTSW |
7 |
101,650,834 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8143:Numa1
|
UTSW |
7 |
101,648,891 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8217:Numa1
|
UTSW |
7 |
101,641,876 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8263:Numa1
|
UTSW |
7 |
101,648,491 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8536:Numa1
|
UTSW |
7 |
101,650,787 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8677:Numa1
|
UTSW |
7 |
101,650,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8683:Numa1
|
UTSW |
7 |
101,626,617 (GRCm39) |
start codon destroyed |
probably null |
0.09 |
|
R8786:Numa1
|
UTSW |
7 |
101,647,616 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8855:Numa1
|
UTSW |
7 |
101,639,835 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8881:Numa1
|
UTSW |
7 |
101,650,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9127:Numa1
|
UTSW |
7 |
101,641,869 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9153:Numa1
|
UTSW |
7 |
101,649,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9214:Numa1
|
UTSW |
7 |
101,650,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9294:Numa1
|
UTSW |
7 |
101,662,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Numa1
|
UTSW |
7 |
101,644,623 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
RF013:Numa1
|
UTSW |
7 |
101,648,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Numa1
|
UTSW |
7 |
101,647,609 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1088:Numa1
|
UTSW |
7 |
101,647,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCAGAGCTCAAAAGTAGC -3'
(R):5'- ACCTAAGAAATGTGGGGTCCTC -3'
Sequencing Primer
(F):5'- AGCTCAAAAGTAGCAGTCTGAC -3'
(R):5'- AGAAATGTGGGGTCCTCAATTATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation