Incidental Mutation 'IGL01836:Mrnip'
ID |
154954 |
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 # |
IGL01836
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
50065678-50090943 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50090675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 280
(T280A)
|
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 benign
Transcript: ENSMUST00000020647
AA Change: T280A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
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 |
Adh6a |
A |
G |
3: 138,019,097 (GRCm39) |
|
probably benign |
Het |
Atp1a1 |
C |
T |
3: 101,498,730 (GRCm39) |
G188R |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,522,311 (GRCm38) |
Y618H |
probably damaging |
Het |
Dot1l |
T |
C |
10: 80,621,700 (GRCm39) |
S451P |
probably benign |
Het |
Dpysl4 |
G |
A |
7: 138,676,089 (GRCm39) |
V294I |
possibly damaging |
Het |
Ehmt1 |
T |
A |
2: 24,753,232 (GRCm39) |
|
probably null |
Het |
Eps8 |
C |
T |
6: 137,460,539 (GRCm39) |
|
probably null |
Het |
Gm7247 |
T |
A |
14: 51,602,853 (GRCm39) |
I63K |
probably damaging |
Het |
Gsdme |
T |
A |
6: 50,199,769 (GRCm39) |
D270V |
probably damaging |
Het |
Kel |
T |
A |
6: 41,674,372 (GRCm39) |
T353S |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,704,331 (GRCm39) |
H403R |
probably benign |
Het |
Or1j14 |
C |
T |
2: 36,417,837 (GRCm39) |
Q138* |
probably null |
Het |
Pkdrej |
A |
G |
15: 85,705,159 (GRCm39) |
L259P |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,488,551 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,593,356 (GRCm39) |
S415P |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,472,239 (GRCm39) |
F968I |
probably damaging |
Het |
Rreb1 |
T |
C |
13: 38,115,433 (GRCm39) |
S931P |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,018,073 (GRCm39) |
I618V |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,645,714 (GRCm39) |
F386I |
probably damaging |
Het |
Sppl2b |
C |
T |
10: 80,697,220 (GRCm39) |
T30I |
probably benign |
Het |
Srf |
T |
C |
17: 46,860,108 (GRCm39) |
|
probably benign |
Het |
Tbc1d22b |
A |
G |
17: 29,818,932 (GRCm39) |
T429A |
probably damaging |
Het |
Tcf20 |
A |
T |
15: 82,739,356 (GRCm39) |
D698E |
probably damaging |
Het |
Tmem106c |
C |
A |
15: 97,867,567 (GRCm39) |
S250R |
probably benign |
Het |
Tmprss3 |
A |
G |
17: 31,410,018 (GRCm39) |
S199P |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,492,060 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
A |
G |
13: 67,480,525 (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 |
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 |
2014-02-04 |