Incidental Mutation 'IGL01484:Hhip'
| ID |
88858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hhip
|
| Ensembl Gene |
ENSMUSG00000064325 |
| Gene Name |
Hedgehog-interacting protein |
| Synonyms |
Hip1, Hip, Hhip1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
80692480-80784635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80723412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 414
(H414R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079038]
|
| AlphaFold |
Q7TN16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079038
AA Change: H414R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078047
Gene: ENSMUSG00000064325
AA Change: H414R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
38 |
220 |
4.9e-26 |
PFAM |
|
Pfam:GSDH
|
226 |
444 |
3e-22 |
PFAM |
|
EGF
|
593 |
635 |
9.63e0 |
SMART |
|
EGF
|
638 |
667 |
2.35e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a reporter allele die shortly after birth due to respiratory failure, show defects in lung, spleen and pancreas morphogenesis, and exhibit small and disorganized pancreatic islets and reduced beta-cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,579,006 (GRCm39) |
H90R |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,158,685 (GRCm39) |
D88G |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,225,884 (GRCm39) |
L760R |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,021,897 (GRCm39) |
E1202G |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,164 (GRCm39) |
H100R |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,713,711 (GRCm39) |
T457M |
probably damaging |
Het |
| Iapp |
A |
G |
6: 142,249,165 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,626,243 (GRCm39) |
N460D |
probably damaging |
Het |
| Itpa |
T |
C |
2: 130,514,019 (GRCm39) |
F77L |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,452,032 (GRCm39) |
D229G |
probably damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,143,442 (GRCm39) |
I5T |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,734,629 (GRCm39) |
V622M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,400 (GRCm39) |
E866G |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,222 (GRCm39) |
W197R |
probably benign |
Het |
| Palmd |
G |
A |
3: 116,746,794 (GRCm39) |
|
probably benign |
Het |
| Pcbp4 |
A |
G |
9: 106,337,848 (GRCm39) |
|
probably null |
Het |
| Pigf |
T |
C |
17: 87,316,308 (GRCm39) |
I157V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,843,191 (GRCm39) |
D204V |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,566,401 (GRCm39) |
D349E |
probably benign |
Het |
| Sarm1 |
A |
T |
11: 78,381,839 (GRCm39) |
C215S |
probably damaging |
Het |
| Serpine1 |
T |
C |
5: 137,092,326 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,520,575 (GRCm39) |
V825A |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,611,673 (GRCm39) |
S2P |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,823,183 (GRCm39) |
S311R |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,169 (GRCm39) |
C139* |
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,010 (GRCm39) |
I695N |
probably damaging |
Het |
| Tmem169 |
T |
C |
1: 72,340,263 (GRCm39) |
V231A |
probably damaging |
Het |
| Ttbk2 |
T |
G |
2: 120,570,314 (GRCm39) |
S1211R |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,888 (GRCm39) |
R1855* |
probably null |
Het |
| Urb1 |
A |
T |
16: 90,574,448 (GRCm39) |
S878T |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,749 (GRCm39) |
Y138* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,867,054 (GRCm39) |
N214D |
possibly damaging |
Het |
|
| Other mutations in Hhip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02560:Hhip
|
APN |
8 |
80,713,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03046:Hhip
|
UTSW |
8 |
80,698,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0068:Hhip
|
UTSW |
8 |
80,715,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Hhip
|
UTSW |
8 |
80,724,121 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0707:Hhip
|
UTSW |
8 |
80,724,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Hhip
|
UTSW |
8 |
80,719,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Hhip
|
UTSW |
8 |
80,716,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Hhip
|
UTSW |
8 |
80,701,675 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2071:Hhip
|
UTSW |
8 |
80,783,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2255:Hhip
|
UTSW |
8 |
80,771,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3847:Hhip
|
UTSW |
8 |
80,724,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4012:Hhip
|
UTSW |
8 |
80,719,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Hhip
|
UTSW |
8 |
80,770,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4607:Hhip
|
UTSW |
8 |
80,724,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4608:Hhip
|
UTSW |
8 |
80,724,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4677:Hhip
|
UTSW |
8 |
80,771,726 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4738:Hhip
|
UTSW |
8 |
80,719,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5040:Hhip
|
UTSW |
8 |
80,724,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5371:Hhip
|
UTSW |
8 |
80,724,220 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5594:Hhip
|
UTSW |
8 |
80,723,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Hhip
|
UTSW |
8 |
80,724,821 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6026:Hhip
|
UTSW |
8 |
80,699,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Hhip
|
UTSW |
8 |
80,699,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6782:Hhip
|
UTSW |
8 |
80,778,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Hhip
|
UTSW |
8 |
80,701,638 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7134:Hhip
|
UTSW |
8 |
80,719,142 (GRCm39) |
missense |
probably benign |
|
|
R7238:Hhip
|
UTSW |
8 |
80,713,641 (GRCm39) |
missense |
probably benign |
|
|
R7828:Hhip
|
UTSW |
8 |
80,724,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8418:Hhip
|
UTSW |
8 |
80,771,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8814:Hhip
|
UTSW |
8 |
80,778,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Hhip
|
UTSW |
8 |
80,771,785 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9101:Hhip
|
UTSW |
8 |
80,770,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Hhip
|
UTSW |
8 |
80,701,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9355:Hhip
|
UTSW |
8 |
80,778,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Hhip
|
UTSW |
8 |
80,719,112 (GRCm39) |
missense |
probably benign |
|
|
R9673:Hhip
|
UTSW |
8 |
80,719,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9685:Hhip
|
UTSW |
8 |
80,723,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Hhip
|
UTSW |
8 |
80,719,189 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Hhip
|
UTSW |
8 |
80,783,880 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation