Incidental Mutation 'R0548:Numa1'
| ID |
44973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Numa1
|
| Ensembl Gene |
ENSMUSG00000066306 |
| Gene Name |
nuclear mitotic apparatus protein 1 |
| Synonyms |
6720401E04Rik, NuMA |
| MMRRC Submission |
038740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0548 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101583318-101664171 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101644731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 236
(S236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084852]
[ENSMUST00000209639]
[ENSMUST00000210475]
[ENSMUST00000210679]
[ENSMUST00000211272]
|
| AlphaFold |
E9Q7G0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084852
AA Change: S236P
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: S236P
| 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 |
possibly damaging
Transcript: ENSMUST00000209639
AA Change: S236P
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210475
AA Change: S236P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210679
AA Change: S209P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211272
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
97% (62/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
G |
8: 41,279,504 (GRCm39) |
C632G |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
| Agfg1 |
A |
G |
1: 82,864,152 (GRCm39) |
T447A |
probably damaging |
Het |
| Ankrd37 |
C |
T |
8: 46,451,433 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,056,282 (GRCm39) |
D1555V |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,654,849 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,468,400 (GRCm39) |
D2242E |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,267,379 (GRCm39) |
|
probably null |
Het |
| Cox10 |
A |
T |
11: 63,867,178 (GRCm39) |
Y273N |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,275,508 (GRCm39) |
D408V |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,650,964 (GRCm39) |
E824D |
probably damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,409 (GRCm39) |
Y461H |
probably damaging |
Het |
| Fam72a |
T |
A |
1: 131,461,599 (GRCm39) |
S95T |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,167 (GRCm39) |
V117D |
possibly damaging |
Het |
| Gm10355 |
C |
T |
3: 101,214,376 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11595 |
A |
T |
11: 99,662,967 (GRCm39) |
C238S |
unknown |
Het |
| Gm7589 |
T |
G |
9: 59,053,439 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
A |
T |
4: 150,066,073 (GRCm39) |
V771E |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,028,090 (GRCm39) |
L1782P |
probably damaging |
Het |
| Il33 |
T |
C |
19: 29,932,047 (GRCm39) |
S147P |
probably benign |
Het |
| Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,367,982 (GRCm39) |
|
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,568,191 (GRCm39) |
K1510R |
unknown |
Het |
| Marco |
T |
C |
1: 120,419,767 (GRCm39) |
T187A |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,298,637 (GRCm39) |
N2132K |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,296,985 (GRCm39) |
K2683M |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,098,979 (GRCm39) |
V602A |
probably damaging |
Het |
| Mphosph10 |
T |
A |
7: 64,028,548 (GRCm39) |
M536L |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| N4bp2 |
G |
T |
5: 65,965,496 (GRCm39) |
V1182L |
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,248,411 (GRCm39) |
F1715L |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,050,882 (GRCm39) |
V1253E |
probably damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,121 (GRCm39) |
I43K |
probably benign |
Het |
| Or4c120 |
C |
A |
2: 89,000,992 (GRCm39) |
C188F |
probably damaging |
Het |
| Or8g18 |
A |
T |
9: 39,149,667 (GRCm39) |
S18T |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,125,582 (GRCm39) |
N4K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,134,950 (GRCm39) |
I1751N |
probably damaging |
Het |
| Postn |
C |
A |
3: 54,274,997 (GRCm39) |
S122* |
probably null |
Het |
| Ppp4r4 |
A |
T |
12: 103,579,074 (GRCm39) |
R762* |
probably null |
Het |
| Rrm1 |
G |
T |
7: 102,116,274 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
G |
1: 186,468,431 (GRCm39) |
V195A |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,558,089 (GRCm39) |
D1250V |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,458,788 (GRCm39) |
|
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,494,994 (GRCm39) |
K416E |
probably benign |
Het |
| Serping1 |
T |
C |
2: 84,600,425 (GRCm39) |
|
probably benign |
Het |
| Slc12a6 |
T |
C |
2: 112,166,269 (GRCm39) |
|
probably null |
Het |
| Smo |
A |
T |
6: 29,759,585 (GRCm39) |
Q639L |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,873,014 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,649,971 (GRCm39) |
D470G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,542,709 (GRCm39) |
N1399S |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,877,119 (GRCm39) |
V240A |
probably damaging |
Het |
| Tmem232 |
G |
A |
17: 65,689,615 (GRCm39) |
T500I |
probably benign |
Het |
| Toporsl |
G |
A |
4: 52,612,140 (GRCm39) |
V678M |
possibly damaging |
Het |
| Vmn1r7 |
A |
T |
6: 57,002,066 (GRCm39) |
F65I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,764,578 (GRCm39) |
M2257I |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,274,089 (GRCm39) |
D344E |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,758 (GRCm39) |
A2333V |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,631,452 (GRCm39) |
K1381R |
probably benign |
Het |
| Zscan18 |
G |
T |
7: 12,508,103 (GRCm39) |
P466T |
probably 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 |
|
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 |
|
R7886:Numa1
|
UTSW |
7 |
101,663,072 (GRCm39) |
missense |
probably benign |
0.27 |
|
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'- GGTAGCCTGGCAGATAAAGAACCC -3'
(R):5'- GCACAGTATCCGTGCCACAGAAAAG -3'
Sequencing Primer
(F):5'- TCCCTAACCAAACACTGGTTATGG -3'
(R):5'- TGAACCCAGTGTCTACCAGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation