Incidental Mutation 'R2354:Hap1'
| ID |
246839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hap1
|
| Ensembl Gene |
ENSMUSG00000006930 |
| Gene Name |
huntingtin-associated protein 1 |
| Synonyms |
HAP-1 |
| MMRRC Submission |
040336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.801)
|
| Stock # |
R2354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100238153-100246954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100245541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 141
(I141N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103124]
[ENSMUST00000138603]
[ENSMUST00000146878]
[ENSMUST00000174635]
|
| AlphaFold |
O35668 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103124
AA Change: I141N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: I141N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
Pfam:HAP1_N
|
79 |
403 |
5e-111 |
PFAM |
|
low complexity region
|
481 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
530 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138603
AA Change: I141N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: I141N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
Pfam:HAP1_N
|
80 |
402 |
1.4e-109 |
PFAM |
|
low complexity region
|
481 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
530 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146878
|
| SMART Domains |
Protein: ENSMUSP00000134625
Gene: ENSMUSG00000006930
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
1 |
181 |
2.2e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173630
|
| SMART Domains |
Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
1 |
177 |
1e-46 |
PFAM |
|
low complexity region
|
250 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174635
|
| SMART Domains |
Protein: ENSMUSP00000133831
Gene: ENSMUSG00000006930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3169 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal feeding and/or suckling behavior, absent gastric milk in neonates, slow postnatal weight gain, and postnatal death. Degeneration in hypothalamic regions that control feeding behavior has been observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,265,107 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
| Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 27,884,797 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,892,917 (GRCm39) |
F242L |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,260,982 (GRCm39) |
V1010E |
probably damaging |
Het |
| Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
| Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,439,777 (GRCm39) |
V141A |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
| Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
| Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
| Zc3h12d |
G |
T |
10: 7,743,702 (GRCm39) |
V491L |
probably benign |
Het |
| Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
Het |
|
| Other mutations in Hap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01022:Hap1
|
APN |
11 |
100,240,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01320:Hap1
|
APN |
11 |
100,240,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01790:Hap1
|
APN |
11 |
100,242,732 (GRCm39) |
splice site |
probably null |
|
|
IGL01949:Hap1
|
APN |
11 |
100,239,588 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02325:Hap1
|
APN |
11 |
100,245,190 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03399:Hap1
|
APN |
11 |
100,245,093 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0346:Hap1
|
UTSW |
11 |
100,246,855 (GRCm39) |
missense |
probably benign |
|
|
R0463:Hap1
|
UTSW |
11 |
100,240,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Hap1
|
UTSW |
11 |
100,240,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1112:Hap1
|
UTSW |
11 |
100,245,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Hap1
|
UTSW |
11 |
100,240,302 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1952:Hap1
|
UTSW |
11 |
100,243,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Hap1
|
UTSW |
11 |
100,244,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Hap1
|
UTSW |
11 |
100,246,828 (GRCm39) |
missense |
probably benign |
|
|
R2112:Hap1
|
UTSW |
11 |
100,244,825 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2211:Hap1
|
UTSW |
11 |
100,245,550 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3829:Hap1
|
UTSW |
11 |
100,246,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4259:Hap1
|
UTSW |
11 |
100,242,668 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4429:Hap1
|
UTSW |
11 |
100,245,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4585:Hap1
|
UTSW |
11 |
100,245,550 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4586:Hap1
|
UTSW |
11 |
100,245,550 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5085:Hap1
|
UTSW |
11 |
100,246,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Hap1
|
UTSW |
11 |
100,242,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5762:Hap1
|
UTSW |
11 |
100,246,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6118:Hap1
|
UTSW |
11 |
100,246,620 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6148:Hap1
|
UTSW |
11 |
100,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Hap1
|
UTSW |
11 |
100,239,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7683:Hap1
|
UTSW |
11 |
100,242,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Hap1
|
UTSW |
11 |
100,240,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8450:Hap1
|
UTSW |
11 |
100,240,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8516:Hap1
|
UTSW |
11 |
100,246,893 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8855:Hap1
|
UTSW |
11 |
100,246,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Hap1
|
UTSW |
11 |
100,240,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9720:Hap1
|
UTSW |
11 |
100,246,696 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGATTGGTCCTCTGTAATCTAC -3'
(R):5'- TGCCTTTACAGCATCCAGGC -3'
Sequencing Primer
(F):5'- TGTAATCTACTTGCCTTCCAGG -3'
(R):5'- AGGCCCCTCCTGAGAAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation