Incidental Mutation 'R5065:Hhipl2'
| ID |
388283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhipl2
|
| Ensembl Gene |
ENSMUSG00000053461 |
| Gene Name |
hedgehog interacting protein-like 2 |
| Synonyms |
4930507C10Rik |
| MMRRC Submission |
042655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
183199147-183217717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 183207580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 433
(H433L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065900]
[ENSMUST00000192527]
|
| AlphaFold |
Q9D2G9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065900
AA Change: H433L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000070719
Gene: ENSMUSG00000053461
AA Change: H433L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
43 |
205 |
5.9e-15 |
PFAM |
|
Pfam:GSDH
|
215 |
550 |
4e-41 |
PFAM |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192527
AA Change: H213L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142121
Gene: ENSMUSG00000053461
AA Change: H213L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSDH
|
1 |
364 |
3.2e-37 |
PFAM |
|
low complexity region
|
388 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193862
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,779,893 (GRCm39) |
N120Y |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
| Aldh9a1 |
A |
G |
1: 167,180,128 (GRCm39) |
E74G |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
| Dennd2a |
C |
A |
6: 39,472,110 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
| Gm8674 |
T |
C |
13: 50,056,613 (GRCm39) |
|
noncoding transcript |
Het |
| Hsfy2 |
G |
A |
1: 56,675,626 (GRCm39) |
Q304* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,251,708 (GRCm39) |
I140V |
unknown |
Het |
| Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
| Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
| Polr3b |
C |
A |
10: 84,468,402 (GRCm39) |
N129K |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
| Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
| Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
| Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably damaging |
Het |
|
| Other mutations in Hhipl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1184:Hhipl2
|
UTSW |
1 |
183,206,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Hhipl2
|
UTSW |
1 |
183,204,432 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1638:Hhipl2
|
UTSW |
1 |
183,208,921 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1826:Hhipl2
|
UTSW |
1 |
183,217,253 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4110:Hhipl2
|
UTSW |
1 |
183,204,920 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4903:Hhipl2
|
UTSW |
1 |
183,207,698 (GRCm39) |
nonsense |
probably null |
|
|
R5326:Hhipl2
|
UTSW |
1 |
183,214,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Hhipl2
|
UTSW |
1 |
183,214,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Hhipl2
|
UTSW |
1 |
183,204,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5900:Hhipl2
|
UTSW |
1 |
183,207,597 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6052:Hhipl2
|
UTSW |
1 |
183,204,965 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6225:Hhipl2
|
UTSW |
1 |
183,209,459 (GRCm39) |
splice site |
probably null |
|
|
R7677:Hhipl2
|
UTSW |
1 |
183,204,951 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8276:Hhipl2
|
UTSW |
1 |
183,217,328 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8337:Hhipl2
|
UTSW |
1 |
183,209,540 (GRCm39) |
nonsense |
probably null |
|
|
R9709:Hhipl2
|
UTSW |
1 |
183,199,747 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGCTGGGGAAAGTGTTAAG -3'
(R):5'- AATATTCAGGTTGTCTCCGCC -3'
Sequencing Primer
(F):5'- AAGTGTTAAGGATTGATGTGAATGG -3'
(R):5'- TGCCAACCTAGTCAACTCACTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation