Incidental Mutation 'R5040:Hhip'
| ID |
393174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhip
|
| Ensembl Gene |
ENSMUSG00000064325 |
| Gene Name |
Hedgehog-interacting protein |
| Synonyms |
Hip1, Hip, Hhip1 |
| MMRRC Submission |
042630-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80692480-80784635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 80724235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 336
(V336L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079038]
|
| AlphaFold |
Q7TN16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079038
AA Change: V336L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078047
Gene: ENSMUSG00000064325
AA Change: V336L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
| Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
| Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
| Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
| Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
| Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
| Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
| Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
| Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
probably benign |
Het |
|
| Other mutations in Hhip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Hhip
|
APN |
8 |
80,723,412 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCATTGAAATCACATTAGTGTC -3'
(R):5'- CCCATGACTTAAAACATAGTGTGTGC -3'
Sequencing Primer
(F):5'- AGTGTCAAAAAGTACTTGCTGG -3'
(R):5'- AACATAGTGTGTGCATCTCTGTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation