Incidental Mutation 'IGL01518:Mrnip'
ID |
89374 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrnip
|
Ensembl Gene |
ENSMUSG00000020381 |
Gene Name |
MRN complex interacting protein |
Synonyms |
3010026O09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01518
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
50065678-50090943 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50088462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 153
(T153A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015981]
[ENSMUST00000020647]
[ENSMUST00000102774]
[ENSMUST00000123164]
[ENSMUST00000136936]
[ENSMUST00000143379]
|
AlphaFold |
Q9D1F5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015981
|
SMART Domains |
Protein: ENSMUSP00000015981 Gene: ENSMUSG00000015837
Domain | Start | End | E-Value | Type |
PB1
|
3 |
102 |
1.96e-14 |
SMART |
ZnF_ZZ
|
122 |
165 |
8.62e-19 |
SMART |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
UBA
|
358 |
397 |
9.33e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020647
AA Change: T153A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102774
|
SMART Domains |
Protein: ENSMUSP00000099835 Gene: ENSMUSG00000015837
Domain | Start | End | E-Value | Type |
PB1
|
3 |
102 |
1.96e-14 |
SMART |
ZnF_ZZ
|
122 |
165 |
8.62e-19 |
SMART |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
UBA
|
396 |
435 |
9.33e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131214
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136936
|
SMART Domains |
Protein: ENSMUSP00000120442 Gene: ENSMUSG00000015837
Domain | Start | End | E-Value | Type |
UBA
|
63 |
102 |
9.33e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143379
|
SMART Domains |
Protein: ENSMUSP00000118662 Gene: ENSMUSG00000015837
Domain | Start | End | E-Value | Type |
PB1
|
3 |
102 |
1.96e-14 |
SMART |
ZnF_ZZ
|
122 |
165 |
8.62e-19 |
SMART |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147846
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
4933427I04Rik |
A |
T |
4: 123,754,494 (GRCm39) |
E136V |
probably benign |
Het |
Aadac |
A |
G |
3: 59,943,320 (GRCm39) |
D75G |
probably damaging |
Het |
Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
Fndc3c1 |
T |
C |
X: 105,475,029 (GRCm39) |
N941S |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
Il2 |
T |
C |
3: 37,177,156 (GRCm39) |
T127A |
possibly damaging |
Het |
Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
Isoc2b |
G |
A |
7: 4,853,763 (GRCm39) |
S137F |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,315 (GRCm39) |
F209S |
possibly damaging |
Het |
Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
St3gal6 |
T |
A |
16: 58,305,138 (GRCm39) |
D108V |
probably benign |
Het |
Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
possibly damaging |
Het |
|
Other mutations in Mrnip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01836:Mrnip
|
APN |
11 |
50,090,675 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02080:Mrnip
|
APN |
11 |
50,088,502 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03059:Mrnip
|
APN |
11 |
50,090,596 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03381:Mrnip
|
APN |
11 |
50,090,417 (GRCm39) |
missense |
probably benign |
|
R0391:Mrnip
|
UTSW |
11 |
50,090,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R1388:Mrnip
|
UTSW |
11 |
50,087,772 (GRCm39) |
missense |
probably benign |
0.02 |
R1561:Mrnip
|
UTSW |
11 |
50,067,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R1736:Mrnip
|
UTSW |
11 |
50,067,718 (GRCm39) |
splice site |
probably null |
|
R1768:Mrnip
|
UTSW |
11 |
50,067,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R5660:Mrnip
|
UTSW |
11 |
50,087,918 (GRCm39) |
missense |
probably null |
1.00 |
R6505:Mrnip
|
UTSW |
11 |
50,090,679 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6803:Mrnip
|
UTSW |
11 |
50,090,730 (GRCm39) |
missense |
probably benign |
|
R7290:Mrnip
|
UTSW |
11 |
50,087,808 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7735:Mrnip
|
UTSW |
11 |
50,087,800 (GRCm39) |
nonsense |
probably null |
|
R8197:Mrnip
|
UTSW |
11 |
50,090,607 (GRCm39) |
missense |
probably benign |
|
R8462:Mrnip
|
UTSW |
11 |
50,090,654 (GRCm39) |
missense |
probably benign |
0.31 |
R8826:Mrnip
|
UTSW |
11 |
50,067,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R9009:Mrnip
|
UTSW |
11 |
50,073,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R9106:Mrnip
|
UTSW |
11 |
50,065,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |