Incidental Mutation 'R4540:Ihh'
| ID |
333474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ihh
|
| Ensembl Gene |
ENSMUSG00000006538 |
| Gene Name |
Indian hedgehog |
| Synonyms |
|
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74984474-74990831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74987558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 161
(N161I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164097]
|
| AlphaFold |
P97812 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164097
AA Change: N161I
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: N161I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
Pfam:HH_signal
|
66 |
227 |
2.7e-88 |
PFAM |
|
HintN
|
239 |
346 |
3.15e-29 |
SMART |
|
HintC
|
347 |
391 |
3.5e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189364
|
| Meta Mutation Damage Score |
0.7764 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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 family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably damaging |
Het |
|
| Other mutations in Ihh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Ihh
|
APN |
1 |
74,985,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02174:Ihh
|
APN |
1 |
74,990,105 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Echidna
|
UTSW |
1 |
74,985,886 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0047:Ihh
|
UTSW |
1 |
74,985,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0047:Ihh
|
UTSW |
1 |
74,985,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1404:Ihh
|
UTSW |
1 |
74,990,372 (GRCm39) |
start codon destroyed |
probably null |
|
|
R1404:Ihh
|
UTSW |
1 |
74,990,372 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2936:Ihh
|
UTSW |
1 |
74,985,705 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4520:Ihh
|
UTSW |
1 |
74,990,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Ihh
|
UTSW |
1 |
74,985,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5736:Ihh
|
UTSW |
1 |
74,985,286 (GRCm39) |
missense |
probably benign |
|
|
R6026:Ihh
|
UTSW |
1 |
74,985,886 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6073:Ihh
|
UTSW |
1 |
74,990,438 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6458:Ihh
|
UTSW |
1 |
74,985,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Ihh
|
UTSW |
1 |
74,985,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Ihh
|
UTSW |
1 |
74,990,306 (GRCm39) |
missense |
unknown |
|
|
R7350:Ihh
|
UTSW |
1 |
74,987,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Ihh
|
UTSW |
1 |
74,985,804 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7835:Ihh
|
UTSW |
1 |
74,985,525 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9128:Ihh
|
UTSW |
1 |
74,985,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ihh
|
UTSW |
1 |
74,985,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Ihh
|
UTSW |
1 |
74,990,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Ihh
|
UTSW |
1 |
74,990,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCAGTCCAAAGCAGCTG -3'
(R):5'- CCCATGAGTGCTGTCGAATC -3'
Sequencing Primer
(F):5'- GGAGGCCATCTTCTCCTTGG -3'
(R):5'- GAGTGCTGTCGAATCTTCTGTCAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation