Incidental Mutation 'R0688:Phyhipl'
ID |
61243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phyhipl
|
Ensembl Gene |
ENSMUSG00000037747 |
Gene Name |
phytanoyl-CoA hydroxylase interacting protein-like |
Synonyms |
4921522K17Rik, PHY2 |
MMRRC Submission |
038873-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0688 (G1)
|
Quality Score |
130 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
70393516-70435121 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70395085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 329
(G329R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046513]
[ENSMUST00000062883]
[ENSMUST00000105436]
[ENSMUST00000162251]
[ENSMUST00000173042]
|
AlphaFold |
Q8BGT8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046513
AA Change: G374R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045807 Gene: ENSMUSG00000037747 AA Change: G374R
Domain | Start | End | E-Value | Type |
FN3
|
49 |
142 |
6.16e-2 |
SMART |
Blast:FN3
|
188 |
262 |
2e-45 |
BLAST |
|
Predicted Effect |
probably benign
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 benign
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: G329R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125179 Gene: ENSMUSG00000037747 AA Change: G329R
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 benign
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
T |
G |
9: 104,001,299 (GRCm39) |
V615G |
probably damaging |
Het |
Apaf1 |
T |
G |
10: 90,897,567 (GRCm39) |
E305D |
possibly damaging |
Het |
Apol10b |
A |
G |
15: 77,469,419 (GRCm39) |
S253P |
probably damaging |
Het |
Bbs9 |
T |
A |
9: 22,479,015 (GRCm39) |
C153S |
probably damaging |
Het |
Bicra |
C |
T |
7: 15,723,247 (GRCm39) |
G90D |
probably damaging |
Het |
Clca4a |
A |
C |
3: 144,667,735 (GRCm39) |
L412R |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,249,281 (GRCm39) |
D597E |
possibly damaging |
Het |
Cxcr5 |
A |
G |
9: 44,424,964 (GRCm39) |
|
probably null |
Het |
Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
Focad |
T |
A |
4: 88,192,450 (GRCm39) |
V593D |
unknown |
Het |
Fsip2 |
T |
A |
2: 82,812,683 (GRCm39) |
S3001T |
probably benign |
Het |
Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
Gdf9 |
T |
A |
11: 53,327,467 (GRCm39) |
L141Q |
probably damaging |
Het |
Gpr180 |
A |
G |
14: 118,385,596 (GRCm39) |
D136G |
probably benign |
Het |
Hsd3b9 |
T |
C |
3: 98,363,710 (GRCm39) |
E45G |
probably benign |
Het |
Itga2 |
G |
T |
13: 114,976,090 (GRCm39) |
A1094E |
probably benign |
Het |
Ly75 |
C |
T |
2: 60,146,565 (GRCm39) |
A1238T |
probably benign |
Het |
Macc1 |
T |
C |
12: 119,410,738 (GRCm39) |
V502A |
probably damaging |
Het |
Mroh4 |
T |
C |
15: 74,478,527 (GRCm39) |
K923E |
probably damaging |
Het |
Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
Myo18a |
A |
G |
11: 77,714,966 (GRCm39) |
D474G |
probably damaging |
Het |
Npat |
T |
A |
9: 53,481,522 (GRCm39) |
Y1077N |
probably benign |
Het |
Or4c109 |
A |
T |
2: 88,817,939 (GRCm39) |
S202R |
probably damaging |
Het |
Or6c69 |
T |
G |
10: 129,747,752 (GRCm39) |
T132P |
probably damaging |
Het |
Or6k14 |
A |
C |
1: 173,927,630 (GRCm39) |
H202P |
probably damaging |
Het |
Or8u8 |
A |
T |
2: 86,011,949 (GRCm39) |
|
probably null |
Het |
Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
Pomgnt1 |
T |
C |
4: 116,013,086 (GRCm39) |
Y430H |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,343,927 (GRCm39) |
F409S |
probably benign |
Het |
Prkd3 |
A |
T |
17: 79,264,662 (GRCm39) |
M651K |
probably damaging |
Het |
Puf60 |
A |
T |
15: 75,942,623 (GRCm39) |
M440K |
probably damaging |
Het |
Recql4 |
A |
G |
15: 76,594,009 (GRCm39) |
|
probably null |
Het |
Sgk1 |
A |
C |
10: 21,874,059 (GRCm39) |
M320L |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,351,706 (GRCm39) |
T235A |
probably damaging |
Het |
Srrm3 |
A |
G |
5: 135,898,130 (GRCm39) |
|
probably benign |
Het |
Tex15 |
C |
T |
8: 34,063,528 (GRCm39) |
T986I |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Zswim4 |
T |
C |
8: 84,955,517 (GRCm39) |
M301V |
possibly damaging |
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 |
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 |
R6303:Phyhipl
|
UTSW |
10 |
70,395,387 (GRCm39) |
splice site |
probably null |
|
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'- GCAGCATCTAGGCAAACAGTGTCAG -3'
(R):5'- AGCAGCGCCTTCCTCAACTAAATTC -3'
Sequencing Primer
(F):5'- AACCTGGGGACATCGTTG -3'
(R):5'- TACAGAAGAAGATGGGGTGCTG -3'
|
Posted On |
2013-07-30 |