Incidental Mutation 'R6303:Phyhipl'
| ID |
509160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phyhipl
|
| Ensembl Gene |
ENSMUSG00000037747 |
| Gene Name |
phytanoyl-CoA hydroxylase interacting protein-like |
| Synonyms |
4921522K17Rik, PHY2 |
| MMRRC Submission |
044410-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
70393516-70435121 bp(-) (GRCm39) |
| Type of Mutation |
splice site (821 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 70395387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046513]
[ENSMUST00000062883]
[ENSMUST00000105436]
[ENSMUST00000162251]
[ENSMUST00000173042]
|
| AlphaFold |
Q8BGT8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046513
AA Change: M273T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045807
Gene: ENSMUSG00000037747
AA Change: M273T
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
49 |
142 |
6.16e-2 |
SMART |
|
Blast:FN3
|
188 |
262 |
2e-45 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000062883
|
| SMART Domains |
Protein: ENSMUSP00000051375
Gene: ENSMUSG00000043259
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
|
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
529 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105436
|
| SMART Domains |
Protein: ENSMUSP00000101076
Gene: ENSMUSG00000043259
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
118 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
212 |
N/A |
INTRINSIC |
|
coiled coil region
|
222 |
290 |
N/A |
INTRINSIC |
|
coiled coil region
|
447 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162144
|
| SMART Domains |
Protein: ENSMUSP00000124828
Gene: ENSMUSG00000037747
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
37 |
130 |
6.16e-2 |
SMART |
|
Blast:FN3
|
176 |
212 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162251
AA Change: M228T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125179
Gene: ENSMUSG00000037747
AA Change: M228T
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
4 |
97 |
6.16e-2 |
SMART |
|
Blast:FN3
|
143 |
217 |
9e-46 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162470
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173042
|
| SMART Domains |
Protein: ENSMUSP00000134648
Gene: ENSMUSG00000043259
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
|
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
528 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219514
|
| Meta Mutation Damage Score |
0.1134 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
| Cobll1 |
A |
T |
2: 64,928,377 (GRCm39) |
M982K |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,814,898 (GRCm39) |
V1593A |
possibly damaging |
Het |
| Ctsh |
A |
G |
9: 89,944,796 (GRCm39) |
S76G |
possibly damaging |
Het |
| Dnajc10 |
T |
G |
2: 80,181,008 (GRCm39) |
D767E |
probably benign |
Het |
| Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
| Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,977,317 (GRCm39) |
E1394G |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,274,714 (GRCm39) |
C1512R |
possibly damaging |
Het |
| Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 15,001,448 (GRCm39) |
V226F |
possibly damaging |
Het |
| Ilf3 |
G |
A |
9: 21,314,432 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
| Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
| Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,340,760 (GRCm39) |
L18P |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,122,891 (GRCm39) |
G742D |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,609 (GRCm39) |
I193F |
probably benign |
Het |
| Polr1b |
G |
A |
2: 128,957,682 (GRCm39) |
R579H |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,739 (GRCm39) |
W202R |
probably damaging |
Het |
| Ppp4r1 |
A |
G |
17: 66,131,724 (GRCm39) |
K489E |
probably benign |
Het |
| Qser1 |
G |
A |
2: 104,593,175 (GRCm39) |
T1704I |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 32,065,270 (GRCm39) |
V776A |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,191,060 (GRCm39) |
M305V |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
| Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
| Usp49 |
C |
A |
17: 47,991,747 (GRCm39) |
Q670K |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,640,028 (GRCm39) |
S202T |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
| Zfp985 |
A |
G |
4: 147,668,232 (GRCm39) |
I367V |
probably benign |
Het |
|
| Other mutations in Phyhipl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02140:Phyhipl
|
APN |
10 |
70,406,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:Phyhipl
|
APN |
10 |
70,401,109 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
PIT4366001:Phyhipl
|
UTSW |
10 |
70,404,788 (GRCm39) |
missense |
probably benign |
|
|
R0512:Phyhipl
|
UTSW |
10 |
70,404,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0688:Phyhipl
|
UTSW |
10 |
70,395,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Phyhipl
|
UTSW |
10 |
70,404,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Phyhipl
|
UTSW |
10 |
70,406,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Phyhipl
|
UTSW |
10 |
70,406,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Phyhipl
|
UTSW |
10 |
70,434,855 (GRCm39) |
missense |
probably benign |
|
|
R1978:Phyhipl
|
UTSW |
10 |
70,395,591 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4077:Phyhipl
|
UTSW |
10 |
70,404,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Phyhipl
|
UTSW |
10 |
70,404,815 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4976:Phyhipl
|
UTSW |
10 |
70,404,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Phyhipl
|
UTSW |
10 |
70,404,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Phyhipl
|
UTSW |
10 |
70,395,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6304:Phyhipl
|
UTSW |
10 |
70,395,387 (GRCm39) |
splice site |
probably null |
|
|
R6649:Phyhipl
|
UTSW |
10 |
70,404,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Phyhipl
|
UTSW |
10 |
70,404,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Phyhipl
|
UTSW |
10 |
70,406,720 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9293:Phyhipl
|
UTSW |
10 |
70,401,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9461:Phyhipl
|
UTSW |
10 |
70,395,243 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9595:Phyhipl
|
UTSW |
10 |
70,395,512 (GRCm39) |
nonsense |
probably null |
|
|
X0022:Phyhipl
|
UTSW |
10 |
70,404,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGACATCCTGGGCGTGG -3'
(R):5'- TCTGGCAGAGAACACTATGGG -3'
Sequencing Primer
(F):5'- CATCCTGGGCGTGGTGGTAC -3'
(R):5'- TCCATCAAGGATAACAGTGGTAGCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation