Incidental Mutation 'IGL01100:Ihh'
| ID |
50264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ihh
|
| Ensembl Gene |
ENSMUSG00000006538 |
| Gene Name |
Indian hedgehog |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74984474-74990831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74985601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 295
(A295T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164097]
|
| AlphaFold |
P97812 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164097
AA Change: A295T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: A295T
| 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 |
0.7682 |
| 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 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,224,673 (GRCm39) |
|
probably null |
Het |
| Abca8a |
C |
T |
11: 109,949,249 (GRCm39) |
|
probably null |
Het |
| Acad11 |
A |
G |
9: 103,953,607 (GRCm39) |
T32A |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,679,833 (GRCm39) |
N122K |
probably benign |
Het |
| Arrb1 |
A |
T |
7: 99,236,420 (GRCm39) |
|
probably null |
Het |
| Csde1 |
C |
A |
3: 102,947,841 (GRCm39) |
R132S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,748 (GRCm39) |
H663R |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,902,576 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 16,286,524 (GRCm39) |
F1000I |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,805,350 (GRCm39) |
L74P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,525,118 (GRCm39) |
V289M |
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Ip6k2 |
G |
T |
9: 108,682,943 (GRCm39) |
S305I |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 189,072,133 (GRCm39) |
V65A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,744,809 (GRCm39) |
C1635Y |
probably benign |
Het |
| Klhdc4 |
G |
A |
8: 122,548,582 (GRCm39) |
Q44* |
probably null |
Het |
| Madd |
C |
A |
2: 90,988,385 (GRCm39) |
R1216L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,401,984 (GRCm39) |
C3076S |
probably damaging |
Het |
| Or1l4 |
A |
T |
2: 37,091,652 (GRCm39) |
H133L |
possibly damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,202 (GRCm39) |
I246F |
probably benign |
Het |
| Polq |
C |
A |
16: 36,881,474 (GRCm39) |
P934T |
probably benign |
Het |
| Prkaa1 |
A |
T |
15: 5,203,799 (GRCm39) |
K227M |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,135,708 (GRCm39) |
G388S |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,573,839 (GRCm39) |
E200G |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,375,863 (GRCm39) |
S466I |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,876,110 (GRCm39) |
|
probably benign |
Het |
| Smg9 |
G |
A |
7: 24,116,376 (GRCm39) |
V314M |
probably damaging |
Het |
| Tktl1 |
G |
A |
X: 73,244,232 (GRCm39) |
R352H |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,953,849 (GRCm39) |
V123A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,535,049 (GRCm39) |
F35I |
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,340,269 (GRCm39) |
Y293N |
probably damaging |
Het |
|
| Other mutations in Ihh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4540:Ihh
|
UTSW |
1 |
74,987,558 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation