Incidental Mutation 'R6630:Dhh'
| ID |
525079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhh
|
| Ensembl Gene |
ENSMUSG00000023000 |
| Gene Name |
desert hedgehog |
| Synonyms |
|
| MMRRC Submission |
044752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R6630 (G1)
|
| Quality Score |
111.008 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98789033-98796421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98792247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 254
(V254M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023737]
[ENSMUST00000229508]
[ENSMUST00000229556]
[ENSMUST00000229775]
|
| AlphaFold |
Q61488 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023737
AA Change: V254M
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: V254M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:HH_signal
|
23 |
185 |
2.1e-86 |
PFAM |
|
Pfam:Peptidase_M15_3
|
129 |
185 |
5.9e-8 |
PFAM |
|
HintN
|
197 |
304 |
1.29e-25 |
SMART |
|
HintC
|
305 |
349 |
1.89e-9 |
SMART |
|
low complexity region
|
358 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229352
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230242
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mutants are male sterile, failing to produce mature spermatozoa; peripheral nerves are abnormal, with thin and disorganized perineurial sheaths. High penetrance of pseudohermaphroditism observed on some mixed backgrounds. [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 |
|---|
| A4gnt |
A |
G |
9: 99,495,971 (GRCm39) |
T136A |
probably benign |
Het |
| Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,659 (GRCm39) |
I349N |
probably damaging |
Het |
| Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
| Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
| Heca |
G |
A |
10: 17,783,856 (GRCm39) |
R104* |
probably null |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Map1s |
T |
C |
8: 71,366,442 (GRCm39) |
V449A |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
| Mapre3 |
G |
T |
5: 31,019,886 (GRCm39) |
V56F |
probably damaging |
Het |
| Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
| Samsn1 |
G |
A |
16: 75,676,092 (GRCm39) |
A101V |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
probably benign |
Het |
|
| Other mutations in Dhh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Dhh
|
APN |
15 |
98,796,101 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01845:Dhh
|
APN |
15 |
98,795,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Dhh
|
APN |
15 |
98,792,192 (GRCm39) |
splice site |
probably null |
|
|
R0096:Dhh
|
UTSW |
15 |
98,791,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1294:Dhh
|
UTSW |
15 |
98,792,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1842:Dhh
|
UTSW |
15 |
98,792,441 (GRCm39) |
splice site |
probably null |
|
|
R4351:Dhh
|
UTSW |
15 |
98,796,099 (GRCm39) |
unclassified |
probably benign |
|
|
R4727:Dhh
|
UTSW |
15 |
98,796,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4744:Dhh
|
UTSW |
15 |
98,792,139 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5120:Dhh
|
UTSW |
15 |
98,796,038 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6419:Dhh
|
UTSW |
15 |
98,792,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Dhh
|
UTSW |
15 |
98,791,907 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7032:Dhh
|
UTSW |
15 |
98,791,907 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7330:Dhh
|
UTSW |
15 |
98,792,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Dhh
|
UTSW |
15 |
98,795,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Dhh
|
UTSW |
15 |
98,795,757 (GRCm39) |
nonsense |
probably null |
|
|
R9755:Dhh
|
UTSW |
15 |
98,792,939 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0060:Dhh
|
UTSW |
15 |
98,792,190 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Dhh
|
UTSW |
15 |
98,792,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTCTCTAGAACCGCGTAG -3'
(R):5'- AGATAACTCACTGGCGGTCC -3'
Sequencing Primer
(F):5'- ACGTCGTTGACCAGCAG -3'
(R):5'- TACATCGTGGTGACTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation