Incidental Mutation 'R9242:Ptchd4'
| ID |
701067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd4
|
| Ensembl Gene |
ENSMUSG00000042256 |
| Gene Name |
patched domain containing 4 |
| Synonyms |
3110082D06Rik |
| MMRRC Submission |
068988-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R9242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 42627604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 22
(R22*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048691
AA Change: R22*
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: R22*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
58 |
867 |
6.1e-102 |
PFAM |
|
Pfam:Sterol-sensing
|
312 |
464 |
2.9e-26 |
PFAM |
|
low complexity region
|
869 |
891 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
C |
A |
5: 8,949,677 (GRCm39) |
T79K |
probably damaging |
Het |
| Ackr3 |
G |
T |
1: 90,142,558 (GRCm39) |
G339V |
probably damaging |
Het |
| Agpat4 |
G |
T |
17: 12,429,186 (GRCm39) |
R146L |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 102,998,936 (GRCm39) |
R364C |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,645,660 (GRCm39) |
T507A |
probably benign |
Het |
| Cand2 |
C |
G |
6: 115,768,923 (GRCm39) |
R578G |
probably benign |
Het |
| Capg |
C |
T |
6: 72,532,869 (GRCm39) |
P111L |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,494,350 (GRCm39) |
T289I |
probably damaging |
Het |
| Ccr6 |
A |
G |
17: 8,474,965 (GRCm39) |
I57V |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,255,583 (GRCm39) |
I434V |
possibly damaging |
Het |
| Chrdl2 |
C |
T |
7: 99,655,743 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,220,109 (GRCm39) |
T640A |
probably benign |
Het |
| Ctsd |
T |
C |
7: 141,937,280 (GRCm39) |
|
probably null |
Het |
| D17H6S53E |
G |
T |
17: 35,346,536 (GRCm39) |
R149L |
possibly damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,769,706 (GRCm39) |
T77A |
probably benign |
Het |
| Emc2 |
T |
C |
15: 43,358,639 (GRCm39) |
M100T |
probably benign |
Het |
| Esrra |
A |
G |
19: 6,889,863 (GRCm39) |
V290A |
probably benign |
Het |
| Fbl |
T |
C |
7: 27,876,620 (GRCm39) |
I207T |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,420,375 (GRCm39) |
N314I |
possibly damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,354 (GRCm39) |
D175V |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,448,806 (GRCm39) |
M1840I |
probably benign |
Het |
| Helz |
T |
C |
11: 107,523,153 (GRCm39) |
L779P |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,289,064 (GRCm39) |
N331I |
probably damaging |
Het |
| Inmt |
C |
T |
6: 55,150,270 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
C |
T |
7: 139,061,634 (GRCm39) |
T102M |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,788,323 (GRCm39) |
Y161C |
probably benign |
Het |
| Lpin2 |
A |
G |
17: 71,553,966 (GRCm39) |
*932W |
probably null |
Het |
| Lrp3 |
C |
T |
7: 34,901,934 (GRCm39) |
R649H |
probably benign |
Het |
| Madd |
G |
A |
2: 90,973,949 (GRCm39) |
T1464I |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,777 (GRCm39) |
Y178* |
probably null |
Het |
| Or5ae2 |
A |
T |
7: 84,506,086 (GRCm39) |
K172* |
probably null |
Het |
| Or5b96 |
T |
A |
19: 12,867,989 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,530,341 (GRCm39) |
G560S |
probably damaging |
Het |
| Ralgapb |
G |
T |
2: 158,277,386 (GRCm39) |
R250L |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,076,228 (GRCm39) |
Y395* |
probably null |
Het |
| Slc35f6 |
G |
T |
5: 30,805,410 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,129 (GRCm39) |
V441A |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,295,228 (GRCm39) |
F77Y |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,229,406 (GRCm39) |
C148* |
probably null |
Het |
| Sox10 |
T |
C |
15: 79,040,640 (GRCm39) |
Y300C |
probably damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,383 (GRCm39) |
|
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,537 (GRCm39) |
V122A |
probably benign |
Het |
| Tpi1 |
T |
C |
6: 124,791,138 (GRCm39) |
Q33R |
probably benign |
Het |
| Unk |
T |
C |
11: 115,940,184 (GRCm39) |
V179A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,365,787 (GRCm39) |
G2214C |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,912 (GRCm39) |
Y40F |
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,192,748 (GRCm39) |
V144A |
probably benign |
Het |
| Wdpcp |
A |
G |
11: 21,835,040 (GRCm39) |
E681G |
probably benign |
Het |
|
| Other mutations in Ptchd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Ptchd4
|
APN |
17 |
42,627,817 (GRCm39) |
nonsense |
probably null |
|
|
IGL01360:Ptchd4
|
APN |
17 |
42,627,936 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01814:Ptchd4
|
APN |
17 |
42,814,177 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01885:Ptchd4
|
APN |
17 |
42,814,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01929:Ptchd4
|
APN |
17 |
42,814,213 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02371:Ptchd4
|
APN |
17 |
42,627,865 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02480:Ptchd4
|
APN |
17 |
42,813,431 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02507:Ptchd4
|
APN |
17 |
42,627,764 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02593:Ptchd4
|
APN |
17 |
42,628,037 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02861:Ptchd4
|
APN |
17 |
42,688,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Ptchd4
|
APN |
17 |
42,813,340 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03384:Ptchd4
|
APN |
17 |
42,813,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Ptchd4
|
UTSW |
17 |
42,813,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Ptchd4
|
UTSW |
17 |
42,627,999 (GRCm39) |
nonsense |
probably null |
|
|
R0243:Ptchd4
|
UTSW |
17 |
42,814,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Ptchd4
|
UTSW |
17 |
42,688,150 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0513:Ptchd4
|
UTSW |
17 |
42,814,637 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0630:Ptchd4
|
UTSW |
17 |
42,688,076 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0662:Ptchd4
|
UTSW |
17 |
42,813,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Ptchd4
|
UTSW |
17 |
42,688,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Ptchd4
|
UTSW |
17 |
42,814,606 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1451:Ptchd4
|
UTSW |
17 |
42,813,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Ptchd4
|
UTSW |
17 |
42,814,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Ptchd4
|
UTSW |
17 |
42,814,507 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1902:Ptchd4
|
UTSW |
17 |
42,814,507 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2135:Ptchd4
|
UTSW |
17 |
42,627,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3935:Ptchd4
|
UTSW |
17 |
42,814,380 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4184:Ptchd4
|
UTSW |
17 |
42,813,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4552:Ptchd4
|
UTSW |
17 |
42,813,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Ptchd4
|
UTSW |
17 |
42,813,668 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5100:Ptchd4
|
UTSW |
17 |
42,814,567 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5640:Ptchd4
|
UTSW |
17 |
42,814,026 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6213:Ptchd4
|
UTSW |
17 |
42,688,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6704:Ptchd4
|
UTSW |
17 |
42,627,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7011:Ptchd4
|
UTSW |
17 |
42,814,759 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7017:Ptchd4
|
UTSW |
17 |
42,813,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Ptchd4
|
UTSW |
17 |
42,814,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Ptchd4
|
UTSW |
17 |
42,814,066 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8153:Ptchd4
|
UTSW |
17 |
42,814,787 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8220:Ptchd4
|
UTSW |
17 |
42,813,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8547:Ptchd4
|
UTSW |
17 |
42,813,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9072:Ptchd4
|
UTSW |
17 |
42,813,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9073:Ptchd4
|
UTSW |
17 |
42,813,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9205:Ptchd4
|
UTSW |
17 |
42,814,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9687:Ptchd4
|
UTSW |
17 |
42,813,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Ptchd4
|
UTSW |
17 |
42,814,806 (GRCm39) |
makesense |
probably null |
|
|
R9718:Ptchd4
|
UTSW |
17 |
42,813,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0062:Ptchd4
|
UTSW |
17 |
42,688,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCTGCAGTGTTTGAAAGAG -3'
(R):5'- CGAATAGAGCTGGCTTTTGGAC -3'
Sequencing Primer
(F):5'- CTGCAGTGTTTGAAAGAGTAGTAAG -3'
(R):5'- CTAGGCTGCGCTCGATCTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation