Incidental Mutation 'R6789:Arl6ip4'
| ID |
532930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl6ip4
|
| Ensembl Gene |
ENSMUSG00000029404 |
| Gene Name |
ADP-ribosylation factor-like 6 interacting protein 4 |
| Synonyms |
Srp25, Aip-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R6789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124254171-124256258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124254665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 53
(G53R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024470]
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000119269]
[ENSMUST00000122394]
[ENSMUST00000145667]
[ENSMUST00000149835]
[ENSMUST00000161273]
[ENSMUST00000161938]
[ENSMUST00000162812]
[ENSMUST00000196401]
[ENSMUST00000196627]
[ENSMUST00000198505]
[ENSMUST00000198770]
|
| AlphaFold |
Q9JM93 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024470
|
| SMART Domains |
Protein: ENSMUSP00000024470
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
42 |
100 |
2e-6 |
BLAST |
|
low complexity region
|
102 |
112 |
N/A |
INTRINSIC |
|
P4Hc
|
136 |
307 |
7.91e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031351
AA Change: G53R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404
AA Change: G53R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
7 |
227 |
2.7e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086123
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119269
|
| SMART Domains |
Protein: ENSMUSP00000112701
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
42 |
133 |
1e-22 |
BLAST |
|
Blast:P4Hc
|
136 |
175 |
1e-20 |
BLAST |
|
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122394
|
| SMART Domains |
Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
2 |
199 |
6.3e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145667
|
| SMART Domains |
Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
19 |
227 |
3e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149835
AA Change: G53R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404
AA Change: G53R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
32 |
N/A |
INTRINSIC |
|
SCOP:d1l9ha_
|
58 |
84 |
7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161273
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
3.2e-129 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
945 |
7.5e-100 |
SMART |
|
LNS2
|
1090 |
1221 |
3.1e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161938
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
251 |
7.5e-116 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
949 |
8.37e-104 |
SMART |
|
LNS2
|
1094 |
1225 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162812
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196401
|
| SMART Domains |
Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196627
|
| SMART Domains |
Protein: ENSMUSP00000143698
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
42 |
133 |
1e-23 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198505
|
| SMART Domains |
Protein: ENSMUSP00000142965
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198770
|
| SMART Domains |
Protein: ENSMUSP00000143318
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:P4Hc
|
11 |
102 |
7e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199457
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
A |
1: 58,343,644 (GRCm39) |
D442E |
probably benign |
Het |
| Asns |
T |
C |
6: 7,675,344 (GRCm39) |
T553A |
probably benign |
Het |
| Atp1a1 |
T |
A |
3: 101,493,614 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,966 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,961,426 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,406,210 (GRCm39) |
Q2341K |
possibly damaging |
Het |
| Dydc2 |
C |
A |
14: 40,771,296 (GRCm39) |
V128L |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,923,284 (GRCm39) |
|
probably null |
Het |
| Efna3 |
C |
T |
3: 89,223,769 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,143,686 (GRCm39) |
E2790K |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,579,865 (GRCm39) |
L780* |
probably null |
Het |
| Gm11569 |
C |
A |
11: 99,689,657 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,507,412 (GRCm39) |
G39D |
probably damaging |
Het |
| Igkv6-17 |
A |
G |
6: 70,348,692 (GRCm39) |
D21G |
probably benign |
Het |
| Klra4 |
T |
C |
6: 130,039,182 (GRCm39) |
Q70R |
probably damaging |
Het |
| Krtap31-2 |
C |
T |
11: 99,827,549 (GRCm39) |
S127F |
possibly damaging |
Het |
| Lingo4 |
G |
T |
3: 94,306,662 (GRCm39) |
|
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,151 (GRCm39) |
K87E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,266,231 (GRCm39) |
M5333K |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,272,781 (GRCm39) |
Y47F |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,471,282 (GRCm39) |
P7261S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 69,005,856 (GRCm39) |
M212I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,865,677 (GRCm39) |
T8M |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,870,792 (GRCm39) |
L41H |
probably damaging |
Het |
| Or10b1 |
T |
C |
10: 78,355,802 (GRCm39) |
L120P |
noncoding transcript |
Het |
| Or5b97 |
T |
A |
19: 12,878,653 (GRCm39) |
I164L |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,278 (GRCm39) |
D599V |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,710,364 (GRCm39) |
T317I |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,434,150 (GRCm39) |
N1406I |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,961,419 (GRCm39) |
Y1027N |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,844 (GRCm39) |
Y105* |
probably null |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rnf8 |
T |
A |
17: 29,854,843 (GRCm39) |
W433R |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,692,227 (GRCm39) |
V232D |
probably benign |
Het |
| Taf11 |
C |
A |
17: 28,126,492 (GRCm39) |
A52S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,665,555 (GRCm39) |
F26L |
probably benign |
Het |
| Trav9-2 |
T |
C |
14: 53,828,819 (GRCm39) |
L63P |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 67,956,235 (GRCm39) |
Y1199C |
probably damaging |
Het |
|
| Other mutations in Arl6ip4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03079:Arl6ip4
|
APN |
5 |
124,254,990 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0612:Arl6ip4
|
UTSW |
5 |
124,254,596 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2436:Arl6ip4
|
UTSW |
5 |
124,254,662 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6030:Arl6ip4
|
UTSW |
5 |
124,255,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6030:Arl6ip4
|
UTSW |
5 |
124,255,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6762:Arl6ip4
|
UTSW |
5 |
124,255,113 (GRCm39) |
unclassified |
probably benign |
|
|
R6906:Arl6ip4
|
UTSW |
5 |
124,254,614 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R8190:Arl6ip4
|
UTSW |
5 |
124,255,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8713:Arl6ip4
|
UTSW |
5 |
124,254,825 (GRCm39) |
missense |
unknown |
|
|
R8777:Arl6ip4
|
UTSW |
5 |
124,254,611 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8777-TAIL:Arl6ip4
|
UTSW |
5 |
124,254,611 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9261:Arl6ip4
|
UTSW |
5 |
124,256,146 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCTAAGCGCTTTCCTTC -3'
(R):5'- AAGTCACTATGTGCCTGGCAG -3'
Sequencing Primer
(F):5'- AAGCGCTTTCCTTCCGGTC -3'
(R):5'- ACTATGTGCCTGGCAGGATCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation