Incidental Mutation 'IGL03059:Mrnip'
| ID |
409384 |
| 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 # |
IGL03059
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50065678-50090943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50090596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 253
(Q253H)
|
| 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: Q253H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
| Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
| Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
| Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
| Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
| Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
| Klhl28 |
C |
T |
12: 64,998,340 (GRCm39) |
A385T |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
| L1cam |
T |
A |
X: 72,910,630 (GRCm39) |
H30L |
probably benign |
Het |
| Lss |
A |
T |
10: 76,367,860 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,253 (GRCm39) |
E143G |
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,080,902 (GRCm39) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
| Or1ab2 |
T |
A |
8: 72,863,842 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
| Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
| Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
| Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
| Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
| Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,746 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mrnip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Mrnip
|
APN |
11 |
50,088,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation