Incidental Mutation 'R9395:Hhipl1'
ID |
710800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hhipl1
|
Ensembl Gene |
ENSMUSG00000021260 |
Gene Name |
hedgehog interacting protein-like 1 |
Synonyms |
1600002O04Rik |
MMRRC Submission |
068965-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9395 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
108272100-108294559 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108285009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 454
(Y454C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021685]
|
AlphaFold |
Q14DK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021685
AA Change: Y454C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021685 Gene: ENSMUSG00000021260 AA Change: Y454C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
Lpl |
T |
A |
8: 69,353,952 (GRCm39) |
I431N |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
Nacc2 |
A |
G |
2: 25,950,128 (GRCm39) |
V536A |
probably damaging |
Het |
Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
Pla2g3 |
C |
T |
11: 3,440,952 (GRCm39) |
Q306* |
probably null |
Het |
Pramel12 |
A |
G |
4: 143,145,605 (GRCm39) |
E358G |
probably benign |
Het |
Prl6a1 |
A |
T |
13: 27,499,400 (GRCm39) |
H56L |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
Vmn2r89 |
T |
A |
14: 51,693,783 (GRCm39) |
W378R |
probably damaging |
Het |
Zic1 |
T |
A |
9: 91,247,070 (GRCm39) |
M1L |
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 |
R5206:Hhipl1
|
UTSW |
12 |
108,278,437 (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 |
R9451:Hhipl1
|
UTSW |
12 |
108,294,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACCCGTTCGTGGATGATC -3'
(R):5'- GAATGCAACAGATCTCAGTCTCTG -3'
Sequencing Primer
(F):5'- TTCGTGGATGATCCCGGAGC -3'
(R):5'- TCAGTCTCTGAGCCCAGG -3'
|
Posted On |
2022-04-18 |