Incidental Mutation 'R5721:Rab11fip2'
| ID |
451466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab11fip2
|
| Ensembl Gene |
ENSMUSG00000040022 |
| Gene Name |
RAB11 family interacting protein 2 (class I) |
| Synonyms |
nRip11, Rab11-FIP2, 4930470G04Rik, A830046J09Rik |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
59891316-59932086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59924042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 279
(S279P)
|
| 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: S421P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: S421P
| 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: S421P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: S421P
| 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: S279P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128813
Gene: ENSMUSG00000040022
AA Change: S279P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably damaging |
Het |
|
| Other mutations in Rab11fip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02883:Rab11fip2
|
APN |
19 |
59,895,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATAGGTAGGAGCAGAC -3'
(R):5'- GGAGAAGGTGAGCCTCTTTG -3'
Sequencing Primer
(F):5'- GGAAAAAGTCTTTGCTCTTCCAAGG -3'
(R):5'- TCTTTGAAAGAGTGACTGGCAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation