Incidental Mutation 'IGL02883:Rab11fip2'
| ID |
362891 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab11fip2
|
| Ensembl Gene |
ENSMUSG00000040022 |
| Gene Name |
RAB11 family interacting protein 2 (class I) |
| Synonyms |
nRip11, Rab11-FIP2, 4930470G04Rik, A830046J09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL02883
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
59891316-59932086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59895430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 344
(V344A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051996]
[ENSMUST00000170819]
[ENSMUST00000171986]
|
| AlphaFold |
G3XA57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051996
AA Change: V486A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: V486A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
14 |
117 |
1.75e-11 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
Pfam:RBD-FIP
|
452 |
499 |
3.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170819
AA Change: V486A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: V486A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
14 |
117 |
1.75e-11 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
Pfam:RBD-FIP
|
452 |
499 |
3.5e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171986
AA Change: V344A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128813
Gene: ENSMUSG00000040022
AA Change: V344A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
Pfam:RBD-FIP
|
310 |
357 |
3.9e-24 |
PFAM |
|
| 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 |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,972 (GRCm39) |
S186R |
possibly damaging |
Het |
| Acap2 |
A |
G |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,599,506 (GRCm39) |
R1726S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,944,946 (GRCm39) |
S133G |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,735 (GRCm39) |
S36R |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,817,013 (GRCm39) |
N190S |
possibly damaging |
Het |
| Crtam |
A |
G |
9: 40,905,797 (GRCm39) |
V44A |
probably benign |
Het |
| Crtc1 |
C |
T |
8: 70,858,775 (GRCm39) |
G112S |
probably benign |
Het |
| Cyp17a1 |
T |
C |
19: 46,657,790 (GRCm39) |
N254S |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,577,011 (GRCm39) |
S156P |
probably benign |
Het |
| Eno2 |
A |
C |
6: 124,743,172 (GRCm39) |
V188G |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,565,953 (GRCm39) |
I427N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,444 (GRCm39) |
K3933E |
probably benign |
Het |
| Igkv8-30 |
T |
C |
6: 70,094,601 (GRCm39) |
M1V |
probably null |
Het |
| Ist1 |
G |
A |
8: 110,410,300 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,661,690 (GRCm39) |
E765G |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,235,449 (GRCm39) |
L92S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,339,855 (GRCm39) |
V58I |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,261,513 (GRCm39) |
V1489E |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,352,720 (GRCm39) |
I1956N |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,763,199 (GRCm39) |
V5100I |
probably benign |
Het |
| Mkrn2os |
C |
A |
6: 115,563,670 (GRCm39) |
G122* |
probably null |
Het |
| Nme3 |
T |
C |
17: 25,115,880 (GRCm39) |
Y78H |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,179 (GRCm39) |
S488P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppp2r5c |
T |
G |
12: 110,488,997 (GRCm39) |
V56G |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,418 (GRCm39) |
T229A |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,238,644 (GRCm39) |
V179M |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,957,671 (GRCm39) |
A267T |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,129,192 (GRCm39) |
W718R |
probably damaging |
Het |
| Taar9 |
T |
C |
10: 23,985,378 (GRCm39) |
N19D |
probably benign |
Het |
| Tas2r113 |
T |
G |
6: 132,870,382 (GRCm39) |
S137A |
probably damaging |
Het |
| Traf4 |
A |
T |
11: 78,052,447 (GRCm39) |
I66N |
possibly damaging |
Het |
| Ucp3 |
A |
T |
7: 100,129,849 (GRCm39) |
T164S |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,216,696 (GRCm39) |
N96K |
probably benign |
Het |
| Uqcc1 |
T |
A |
2: 155,753,749 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Vmn1r128 |
A |
G |
7: 21,083,440 (GRCm39) |
K48R |
probably benign |
Het |
|
| Other mutations in Rab11fip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0081:Rab11fip2
|
UTSW |
19 |
59,895,567 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0466:Rab11fip2
|
UTSW |
19 |
59,894,675 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1690:Rab11fip2
|
UTSW |
19 |
59,925,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Rab11fip2
|
UTSW |
19 |
59,924,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Rab11fip2
|
UTSW |
19 |
59,925,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Rab11fip2
|
UTSW |
19 |
59,924,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4680:Rab11fip2
|
UTSW |
19 |
59,924,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4746:Rab11fip2
|
UTSW |
19 |
59,925,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Rab11fip2
|
UTSW |
19 |
59,924,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Rab11fip2
|
UTSW |
19 |
59,925,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5721:Rab11fip2
|
UTSW |
19 |
59,924,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Rab11fip2
|
UTSW |
19 |
59,925,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6602:Rab11fip2
|
UTSW |
19 |
59,931,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6694:Rab11fip2
|
UTSW |
19 |
59,925,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Rab11fip2
|
UTSW |
19 |
59,895,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Rab11fip2
|
UTSW |
19 |
59,925,441 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7350:Rab11fip2
|
UTSW |
19 |
59,925,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7636:Rab11fip2
|
UTSW |
19 |
59,931,317 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7875:Rab11fip2
|
UTSW |
19 |
59,925,655 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8252:Rab11fip2
|
UTSW |
19 |
59,925,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation