Incidental Mutation 'R5206:Hhipl1'
| ID |
402039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhipl1
|
| Ensembl Gene |
ENSMUSG00000021260 |
| Gene Name |
hedgehog interacting protein-like 1 |
| Synonyms |
1600002O04Rik |
| MMRRC Submission |
042781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108272100-108294559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108278437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 255
(R255H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021685]
|
| AlphaFold |
Q14DK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021685
AA Change: R255H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: R255H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
28 |
189 |
2.4e-21 |
PFAM |
|
Pfam:GSDH
|
199 |
532 |
3e-39 |
PFAM |
|
low complexity region
|
619 |
670 |
N/A |
INTRINSIC |
|
SR
|
682 |
785 |
2.01e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223395
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,272 (GRCm39) |
E487G |
probably benign |
Het |
| 2610021A01Rik |
A |
T |
7: 41,276,009 (GRCm39) |
K571* |
probably null |
Het |
| A2m |
T |
C |
6: 121,651,766 (GRCm39) |
V1278A |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,806,589 (GRCm39) |
V801A |
probably damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,731 (GRCm39) |
D418E |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,982,572 (GRCm39) |
A3727V |
unknown |
Het |
| Cmah |
T |
G |
13: 24,648,267 (GRCm39) |
F501V |
probably damaging |
Het |
| Csf2rb2 |
T |
A |
15: 78,176,952 (GRCm39) |
I173L |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,491,942 (GRCm39) |
W1126R |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,000,633 (GRCm39) |
A1690E |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,598,472 (GRCm39) |
L1879P |
probably damaging |
Het |
| Eif3j2 |
A |
T |
18: 43,610,647 (GRCm39) |
D55E |
probably benign |
Het |
| Fam83f |
G |
A |
15: 80,576,255 (GRCm39) |
G302D |
possibly damaging |
Het |
| Fus |
G |
A |
7: 127,568,969 (GRCm39) |
G40D |
unknown |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
T |
C |
6: 100,781,576 (GRCm39) |
V417A |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,216,477 (GRCm39) |
I838N |
possibly damaging |
Het |
| Lama5 |
C |
A |
2: 179,833,097 (GRCm39) |
C1579F |
probably damaging |
Het |
| Med13 |
C |
T |
11: 86,210,705 (GRCm39) |
R479H |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,155,309 (GRCm39) |
Y281* |
probably null |
Het |
| Or5b113 |
G |
T |
19: 13,342,429 (GRCm39) |
G146C |
possibly damaging |
Het |
| Or5k15 |
G |
T |
16: 58,710,381 (GRCm39) |
N67K |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,520,155 (GRCm39) |
M66L |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,589,967 (GRCm39) |
Y251F |
probably benign |
Het |
| Pak6 |
A |
G |
2: 118,523,784 (GRCm39) |
E313G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,224,549 (GRCm39) |
Y145N |
probably damaging |
Het |
| Pla2g2f |
T |
A |
4: 138,479,662 (GRCm39) |
D165V |
probably benign |
Het |
| Plbd1 |
C |
T |
6: 136,618,154 (GRCm39) |
V133M |
probably benign |
Het |
| Ppp1r14bl |
C |
T |
1: 23,141,183 (GRCm39) |
G44R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,675,056 (GRCm39) |
Y1352C |
probably damaging |
Het |
| Scamp1 |
C |
T |
13: 94,368,615 (GRCm39) |
R51H |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slc2a2 |
G |
A |
3: 28,762,756 (GRCm39) |
V100M |
probably damaging |
Het |
| Slc38a10 |
C |
G |
11: 119,995,888 (GRCm39) |
A1062P |
probably damaging |
Het |
| Snai1 |
T |
C |
2: 167,380,888 (GRCm39) |
I127T |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,144,395 (GRCm39) |
G692D |
probably damaging |
Het |
| Stc1 |
A |
T |
14: 69,269,048 (GRCm39) |
D72V |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,804,024 (GRCm39) |
N351S |
probably damaging |
Het |
| Trim28 |
A |
G |
7: 12,759,275 (GRCm39) |
I130V |
probably benign |
Het |
| Trim39 |
A |
G |
17: 36,571,382 (GRCm39) |
Y459H |
probably damaging |
Het |
| Ugt1a6b |
C |
A |
1: 88,035,170 (GRCm39) |
Y169* |
probably null |
Het |
| Vasp |
T |
C |
7: 18,992,780 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
G |
T |
17: 19,598,868 (GRCm39) |
G184V |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,266,988 (GRCm39) |
T358I |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,247,022 (GRCm39) |
V35A |
probably benign |
Het |
|
| Other mutations in Hhipl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
lemon_drops
|
UTSW |
12 |
108,278,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474_Hhipl1_947
|
UTSW |
12 |
108,277,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rock_candy
|
UTSW |
12 |
108,277,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Hhipl1
|
UTSW |
12 |
108,288,156 (GRCm39) |
splice site |
probably benign |
|
|
R0180:Hhipl1
|
UTSW |
12 |
108,294,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Hhipl1
|
UTSW |
12 |
108,285,661 (GRCm39) |
nonsense |
probably null |
|
|
R0962:Hhipl1
|
UTSW |
12 |
108,293,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1170:Hhipl1
|
UTSW |
12 |
108,277,952 (GRCm39) |
nonsense |
probably null |
|
|
R1474:Hhipl1
|
UTSW |
12 |
108,277,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Hhipl1
|
UTSW |
12 |
108,286,319 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2001:Hhipl1
|
UTSW |
12 |
108,288,118 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2103:Hhipl1
|
UTSW |
12 |
108,293,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2132:Hhipl1
|
UTSW |
12 |
108,277,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Hhipl1
|
UTSW |
12 |
108,284,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2408:Hhipl1
|
UTSW |
12 |
108,284,806 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3431:Hhipl1
|
UTSW |
12 |
108,277,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Hhipl1
|
UTSW |
12 |
108,277,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:Hhipl1
|
UTSW |
12 |
108,284,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Hhipl1
|
UTSW |
12 |
108,278,566 (GRCm39) |
missense |
probably benign |
|
|
R4744:Hhipl1
|
UTSW |
12 |
108,286,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4760:Hhipl1
|
UTSW |
12 |
108,286,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4927:Hhipl1
|
UTSW |
12 |
108,278,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Hhipl1
|
UTSW |
12 |
108,278,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5292:Hhipl1
|
UTSW |
12 |
108,294,037 (GRCm39) |
missense |
probably benign |
|
|
R5445:Hhipl1
|
UTSW |
12 |
108,294,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6248:Hhipl1
|
UTSW |
12 |
108,284,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9395:Hhipl1
|
UTSW |
12 |
108,285,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Hhipl1
|
UTSW |
12 |
108,294,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTCAACTCGAACCTGGG -3'
(R):5'- CAGAATCCACCTCTCTGAGC -3'
Sequencing Primer
(F):5'- GTGGCCAATGGACTTCGAAACC -3'
(R):5'- TGAGCCATGATCCACTGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation