Incidental Mutation 'IGL01144:Nexmif'
| ID |
53364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nexmif
|
| Ensembl Gene |
ENSMUSG00000046449 |
| Gene Name |
neurite extension and migration factor |
| Synonyms |
Xpn, C77370 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
103121040-103244791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103127559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1453
(S1453P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056502]
[ENSMUST00000087879]
[ENSMUST00000118314]
|
| AlphaFold |
Q5DTT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056502
AA Change: S1453P
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049716
Gene: ENSMUSG00000046449
AA Change: S1453P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
470 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1012 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087879
AA Change: S1453P
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000085187
Gene: ENSMUSG00000046449
AA Change: S1453P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4683
|
284 |
690 |
3.5e-119 |
PFAM |
|
low complexity region
|
854 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1012 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118314
AA Change: S1453P
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113625
Gene: ENSMUSG00000046449
AA Change: S1453P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
470 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1012 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1201 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.[provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cox19 |
T |
C |
5: 139,330,881 (GRCm39) |
K10E |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,329 (GRCm39) |
K143N |
unknown |
Het |
| Dnajb13 |
T |
C |
7: 100,152,431 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,636,814 (GRCm39) |
N91D |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,060,925 (GRCm39) |
I801T |
probably damaging |
Het |
| Nobox |
A |
G |
6: 43,280,935 (GRCm39) |
V513A |
possibly damaging |
Het |
| Phactr1 |
G |
A |
13: 43,191,000 (GRCm39) |
D157N |
possibly damaging |
Het |
| Plod1 |
G |
T |
4: 148,017,211 (GRCm39) |
Q49K |
probably benign |
Het |
| Ppp1r10 |
C |
T |
17: 36,237,456 (GRCm39) |
R209C |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,696,882 (GRCm39) |
E1011G |
unknown |
Het |
| Rab27a |
G |
A |
9: 72,982,850 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
T |
A |
7: 122,575,169 (GRCm39) |
D59E |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,929,110 (GRCm39) |
T1432K |
probably damaging |
Het |
| Sorbs3 |
A |
C |
14: 70,429,017 (GRCm39) |
S383A |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,014,829 (GRCm39) |
D436E |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,682,099 (GRCm39) |
Y1266N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,551,173 (GRCm39) |
Y29660* |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,268,247 (GRCm39) |
I989T |
probably damaging |
Het |
| Zkscan14 |
G |
T |
5: 145,132,806 (GRCm39) |
R242S |
probably benign |
Het |
|
| Other mutations in Nexmif |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Nexmif
|
APN |
X |
103,130,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02070:Nexmif
|
APN |
X |
103,126,817 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02074:Nexmif
|
APN |
X |
103,131,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02165:Nexmif
|
APN |
X |
103,128,360 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0739:Nexmif
|
UTSW |
X |
103,128,555 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1955:Nexmif
|
UTSW |
X |
103,127,559 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2274:Nexmif
|
UTSW |
X |
103,131,452 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2504:Nexmif
|
UTSW |
X |
103,127,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3689:Nexmif
|
UTSW |
X |
103,131,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3690:Nexmif
|
UTSW |
X |
103,131,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Nexmif
|
UTSW |
X |
103,130,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Nexmif
|
UTSW |
X |
103,130,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Nexmif
|
UTSW |
X |
103,129,841 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
X0020:Nexmif
|
UTSW |
X |
103,128,555 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Posted On |
2013-06-21 |
Incidental Mutation