Incidental Mutation 'R9706:Ptchd4'
| ID |
729830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd4
|
| Ensembl Gene |
ENSMUSG00000042256 |
| Gene Name |
patched domain containing 4 |
| Synonyms |
3110082D06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R9706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 42814806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 902
(*902W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048691
AA Change: *902W
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: *902W
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,834,929 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
T |
C |
1: 87,713,977 (GRCm39) |
F463L |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,658,689 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cldn10 |
T |
A |
14: 119,099,189 (GRCm39) |
M101K |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,520 (GRCm39) |
L209* |
probably null |
Het |
| Crocc |
C |
A |
4: 140,746,046 (GRCm39) |
R1855L |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,302,869 (GRCm39) |
M169K |
probably benign |
Het |
| Defb22 |
T |
C |
2: 152,327,820 (GRCm39) |
T122A |
unknown |
Het |
| Dnaaf6rt |
A |
C |
1: 31,262,252 (GRCm39) |
E78A |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,026 (GRCm39) |
I238N |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,625,901 (GRCm39) |
S457T |
possibly damaging |
Het |
| Ephb3 |
A |
T |
16: 21,039,193 (GRCm39) |
I604F |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,249 (GRCm39) |
D120G |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,735,474 (GRCm39) |
T267S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,161 (GRCm39) |
Q471L |
probably damaging |
Het |
| H2-Q4 |
A |
T |
17: 35,599,129 (GRCm39) |
Y133F |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,325,735 (GRCm39) |
H285Q |
probably benign |
Het |
| Hc |
A |
C |
2: 34,914,196 (GRCm39) |
V837G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,305,279 (GRCm39) |
V3151I |
probably benign |
Het |
| Inpp5e |
T |
A |
2: 26,292,126 (GRCm39) |
M311L |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,449,960 (GRCm39) |
F644S |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo3 |
A |
T |
10: 80,670,288 (GRCm39) |
F547L |
probably damaging |
Het |
| Lrrc47 |
T |
G |
4: 154,096,487 (GRCm39) |
L94R |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,881,902 (GRCm39) |
F155S |
|
Het |
| Masp2 |
A |
G |
4: 148,696,597 (GRCm39) |
E398G |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,312,352 (GRCm39) |
S477L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,655 (GRCm39) |
V256A |
possibly damaging |
Het |
| Muc1 |
T |
A |
3: 89,138,888 (GRCm39) |
I499K |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,811,648 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
T |
7: 139,999,266 (GRCm39) |
I140N |
probably damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,779 (GRCm39) |
M197L |
probably benign |
Het |
| Or52e18 |
A |
G |
7: 104,609,195 (GRCm39) |
V248A |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,658 (GRCm39) |
H159L |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,905,683 (GRCm39) |
H4971L |
unknown |
Het |
| Pcsk1 |
G |
T |
13: 75,247,473 (GRCm39) |
|
probably null |
Het |
| Pik3r5 |
C |
A |
11: 68,381,426 (GRCm39) |
T204N |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,107,300 (GRCm39) |
V1621A |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,334,298 (GRCm39) |
D907G |
probably benign |
Het |
| R3hdm4 |
A |
T |
10: 79,752,655 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
C |
T |
9: 65,558,285 (GRCm39) |
A107V |
probably benign |
Het |
| Rgs14 |
G |
A |
13: 55,531,934 (GRCm39) |
E544K |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,445,822 (GRCm39) |
Q2623* |
probably null |
Het |
| Sec16b |
G |
A |
1: 157,378,695 (GRCm39) |
|
probably null |
Het |
| Spire1 |
C |
T |
18: 67,636,508 (GRCm39) |
R386Q |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,201,625 (GRCm39) |
Y492F |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,677,104 (GRCm39) |
T427I |
probably benign |
Het |
| Tbx5 |
C |
A |
5: 119,979,909 (GRCm39) |
L152I |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,925 (GRCm39) |
M237T |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,510,000 (GRCm39) |
F526I |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
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 |
|
R9242:Ptchd4
|
UTSW |
17 |
42,627,604 (GRCm39) |
nonsense |
probably null |
|
|
R9687:Ptchd4
|
UTSW |
17 |
42,813,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCAAATGCTTGCTGCTGACC -3'
(R):5'- GAATTATCTCTCATGGAGCACAAGG -3'
Sequencing Primer
(F):5'- CTGCTGACCGGGGGTTG -3'
(R):5'- AGGTTGTAAAGAACTTCACCTCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation