Incidental Mutation 'IGL03398:Nsl1'
| ID |
421337 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nsl1
|
| Ensembl Gene |
ENSMUSG00000062510 |
| Gene Name |
NSL1, MIS12 kinetochore complex component |
| Synonyms |
LOC381318, 4833432M17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
IGL03398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190794710-190816755 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 190814361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078259]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078259
|
| SMART Domains |
Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:Mis14
|
82 |
197 |
2.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192879
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,566 (GRCm39) |
I248L |
probably benign |
Het |
| Ackr2 |
C |
T |
9: 121,737,654 (GRCm39) |
L10F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,789,890 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,564,094 (GRCm39) |
E355G |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,889,522 (GRCm39) |
V1031A |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,914,527 (GRCm39) |
V1719E |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,461,539 (GRCm39) |
N1284D |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
| Dhx32 |
A |
G |
7: 133,361,254 (GRCm39) |
Y60H |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,368,537 (GRCm39) |
V818D |
possibly damaging |
Het |
| Fcamr |
A |
G |
1: 130,730,985 (GRCm39) |
I79M |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,817 (GRCm39) |
N324T |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,548,336 (GRCm39) |
I483T |
probably damaging |
Het |
| Ppp2r5e |
A |
C |
12: 75,509,179 (GRCm39) |
W367G |
possibly damaging |
Het |
| Pramel31 |
A |
G |
4: 144,090,061 (GRCm39) |
D367G |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,852 (GRCm39) |
T135I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,403,182 (GRCm39) |
N955I |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,370 (GRCm39) |
Y2055H |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,459,098 (GRCm39) |
N111D |
probably damaging |
Het |
| Ttc5 |
T |
C |
14: 51,018,964 (GRCm39) |
E51G |
possibly damaging |
Het |
| Usp47 |
A |
T |
7: 111,673,710 (GRCm39) |
E334V |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,769,247 (GRCm39) |
K2227E |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,286,798 (GRCm39) |
E464G |
probably damaging |
Het |
|
| Other mutations in Nsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02546:Nsl1
|
APN |
1 |
190,803,398 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02988:Nsl1
|
UTSW |
1 |
190,795,300 (GRCm39) |
nonsense |
probably null |
|
|
R0054:Nsl1
|
UTSW |
1 |
190,814,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Nsl1
|
UTSW |
1 |
190,814,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0284:Nsl1
|
UTSW |
1 |
190,797,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Nsl1
|
UTSW |
1 |
190,795,237 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
|
R1776:Nsl1
|
UTSW |
1 |
190,795,385 (GRCm39) |
missense |
probably benign |
|
|
R5187:Nsl1
|
UTSW |
1 |
190,807,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5470:Nsl1
|
UTSW |
1 |
190,812,737 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5838:Nsl1
|
UTSW |
1 |
190,802,310 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6133:Nsl1
|
UTSW |
1 |
190,803,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6636:Nsl1
|
UTSW |
1 |
190,807,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6817:Nsl1
|
UTSW |
1 |
190,795,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7755:Nsl1
|
UTSW |
1 |
190,795,380 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8506:Nsl1
|
UTSW |
1 |
190,808,832 (GRCm39) |
missense |
unknown |
|
|
R8710:Nsl1
|
UTSW |
1 |
190,795,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8731:Nsl1
|
UTSW |
1 |
190,814,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nsl1
|
UTSW |
1 |
190,795,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation