Incidental Mutation 'R4478:Rab11fip3'
| ID |
331379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab11fip3
|
| Ensembl Gene |
ENSMUSG00000037098 |
| Gene Name |
RAB11 family interacting protein 3 (class II) |
| Synonyms |
D030060O14Rik, Rab11-FIP3 |
| MMRRC Submission |
041735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26208010-26288529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26235057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 619
(E619K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118828]
[ENSMUST00000120691]
[ENSMUST00000122103]
[ENSMUST00000148021]
|
| AlphaFold |
Q8CHD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118828
AA Change: E16K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113048
Gene: ENSMUSG00000037098
AA Change: E16K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
333 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
335 |
385 |
2e-11 |
BLAST |
|
Pfam:RBD-FIP
|
404 |
444 |
2.8e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120691
AA Change: E619K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: E619K
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
29 |
130 |
3.12e-31 |
PROSPERO |
|
internal_repeat_1
|
144 |
294 |
3.12e-31 |
PROSPERO |
|
EFh
|
500 |
528 |
3.03e-1 |
SMART |
|
EFh
|
532 |
560 |
3.86e1 |
SMART |
|
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
936 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
938 |
988 |
2e-11 |
BLAST |
|
Pfam:RBD-FIP
|
1007 |
1047 |
4.7e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122103
AA Change: E619K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: E619K
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
29 |
130 |
2.03e-32 |
PROSPERO |
|
internal_repeat_1
|
144 |
294 |
2.03e-32 |
PROSPERO |
|
EFh
|
500 |
528 |
3.03e-1 |
SMART |
|
EFh
|
532 |
560 |
3.86e1 |
SMART |
|
low complexity region
|
784 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
981 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
983 |
1033 |
2e-11 |
BLAST |
|
Pfam:RBD-FIP
|
1052 |
1092 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144587
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148021
AA Change: E38K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.2226 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
94% (46/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,185,171 (GRCm39) |
D509G |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,610,594 (GRCm39) |
T1379I |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,659 (GRCm39) |
|
probably benign |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cpne5 |
T |
C |
17: 29,428,450 (GRCm39) |
T118A |
probably damaging |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dag1 |
G |
C |
9: 108,085,929 (GRCm39) |
T404R |
probably damaging |
Het |
| Dnah3 |
T |
G |
7: 119,671,086 (GRCm39) |
H599P |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fabp9 |
T |
C |
3: 10,262,166 (GRCm39) |
Y30C |
probably damaging |
Het |
| Fnbp1 |
G |
A |
2: 30,995,266 (GRCm39) |
A56V |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,252,481 (GRCm39) |
A67V |
probably damaging |
Het |
| Il6ra |
T |
A |
3: 89,797,597 (GRCm39) |
Y90F |
probably damaging |
Het |
| Kcnk18 |
T |
C |
19: 59,223,676 (GRCm39) |
S274P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,500,600 (GRCm39) |
D655V |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,607,391 (GRCm39) |
A585T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myo9b |
A |
T |
8: 71,743,725 (GRCm39) |
K262M |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10aa1 |
C |
T |
1: 173,870,182 (GRCm39) |
T222I |
probably benign |
Het |
| Or6c6b |
C |
T |
10: 129,147,645 (GRCm39) |
L90F |
possibly damaging |
Het |
| Or8h10 |
G |
T |
2: 86,808,562 (GRCm39) |
R193S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,173,068 (GRCm39) |
C1288S |
possibly damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,809,380 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,812,761 (GRCm39) |
R311L |
probably damaging |
Het |
| S2bpcox16 |
T |
C |
12: 81,535,990 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,424,990 (GRCm39) |
L407* |
probably null |
Het |
| Snap29 |
T |
C |
16: 17,246,019 (GRCm39) |
V213A |
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,555,773 (GRCm39) |
|
probably null |
Het |
| Stard7 |
T |
A |
2: 127,126,179 (GRCm39) |
L77Q |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,110 (GRCm39) |
Y668H |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,364,696 (GRCm39) |
I266T |
probably damaging |
Het |
| Tmem87a |
C |
T |
2: 120,199,824 (GRCm39) |
W440* |
probably null |
Het |
| Tnr |
T |
A |
1: 159,712,326 (GRCm39) |
|
probably null |
Het |
| Ubl3 |
C |
T |
5: 148,448,787 (GRCm39) |
S18N |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,106,241 (GRCm39) |
D61E |
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp1 |
A |
G |
8: 112,397,175 (GRCm39) |
R366G |
probably damaging |
Het |
| Zfp282 |
A |
T |
6: 47,867,630 (GRCm39) |
R269* |
probably null |
Het |
|
| Other mutations in Rab11fip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Rab11fip3
|
APN |
17 |
26,210,783 (GRCm39) |
splice site |
probably benign |
|
|
IGL00420:Rab11fip3
|
APN |
17 |
26,286,599 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01291:Rab11fip3
|
APN |
17 |
26,235,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01473:Rab11fip3
|
APN |
17 |
26,287,709 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01687:Rab11fip3
|
APN |
17 |
26,286,956 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01764:Rab11fip3
|
APN |
17 |
26,287,667 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01977:Rab11fip3
|
APN |
17 |
26,286,977 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02140:Rab11fip3
|
APN |
17 |
26,286,866 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02434:Rab11fip3
|
APN |
17 |
26,287,809 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02549:Rab11fip3
|
APN |
17 |
26,213,294 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02889:Rab11fip3
|
APN |
17 |
26,286,653 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02953:Rab11fip3
|
APN |
17 |
26,286,653 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
ANU05:Rab11fip3
|
UTSW |
17 |
26,235,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0193:Rab11fip3
|
UTSW |
17 |
26,209,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0388:Rab11fip3
|
UTSW |
17 |
26,288,046 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0543:Rab11fip3
|
UTSW |
17 |
26,213,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0678:Rab11fip3
|
UTSW |
17 |
26,287,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1283:Rab11fip3
|
UTSW |
17 |
26,223,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Rab11fip3
|
UTSW |
17 |
26,210,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1625:Rab11fip3
|
UTSW |
17 |
26,287,865 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1973:Rab11fip3
|
UTSW |
17 |
26,243,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2160:Rab11fip3
|
UTSW |
17 |
26,288,028 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2197:Rab11fip3
|
UTSW |
17 |
26,287,152 (GRCm39) |
missense |
probably benign |
|
|
R2382:Rab11fip3
|
UTSW |
17 |
26,209,841 (GRCm39) |
nonsense |
probably null |
|
|
R3028:Rab11fip3
|
UTSW |
17 |
26,234,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3797:Rab11fip3
|
UTSW |
17 |
26,287,500 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4012:Rab11fip3
|
UTSW |
17 |
26,287,002 (GRCm39) |
frame shift |
probably null |
|
|
R4064:Rab11fip3
|
UTSW |
17 |
26,243,368 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4527:Rab11fip3
|
UTSW |
17 |
26,255,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Rab11fip3
|
UTSW |
17 |
26,287,680 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5048:Rab11fip3
|
UTSW |
17 |
26,286,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5138:Rab11fip3
|
UTSW |
17 |
26,210,000 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5317:Rab11fip3
|
UTSW |
17 |
26,287,052 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5453:Rab11fip3
|
UTSW |
17 |
26,211,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5495:Rab11fip3
|
UTSW |
17 |
26,235,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5525:Rab11fip3
|
UTSW |
17 |
26,210,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Rab11fip3
|
UTSW |
17 |
26,235,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Rab11fip3
|
UTSW |
17 |
26,255,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5818:Rab11fip3
|
UTSW |
17 |
26,235,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Rab11fip3
|
UTSW |
17 |
26,286,843 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6716:Rab11fip3
|
UTSW |
17 |
26,210,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Rab11fip3
|
UTSW |
17 |
26,210,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7161:Rab11fip3
|
UTSW |
17 |
26,288,064 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7390:Rab11fip3
|
UTSW |
17 |
26,287,126 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7447:Rab11fip3
|
UTSW |
17 |
26,287,848 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7836:Rab11fip3
|
UTSW |
17 |
26,287,232 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7981:Rab11fip3
|
UTSW |
17 |
26,216,963 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8008:Rab11fip3
|
UTSW |
17 |
26,286,956 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8887:Rab11fip3
|
UTSW |
17 |
26,286,927 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8962:Rab11fip3
|
UTSW |
17 |
26,231,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Rab11fip3
|
UTSW |
17 |
26,237,219 (GRCm39) |
missense |
unknown |
|
|
R9329:Rab11fip3
|
UTSW |
17 |
26,231,032 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9506:Rab11fip3
|
UTSW |
17 |
26,213,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCCAAGGGACACGCG -3'
(R):5'- AGCCAGTGTTGATGTTTAGGGAT -3'
Sequencing Primer
(F):5'- GGGACACGCGCACACAC -3'
(R):5'- GATAGCTATATCAGGCTCCTGTCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation