Incidental Mutation 'IGL02119:Havcr1'
| ID |
280506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Havcr1
|
| Ensembl Gene |
ENSMUSG00000040405 |
| Gene Name |
hepatitis A virus cellular receptor 1 |
| Synonyms |
Timd1, Tim1, TIM-1, KIM-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46630644-46670405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46666320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 261
(Y261C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047568]
[ENSMUST00000081819]
[ENSMUST00000109223]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047568
AA Change: Y261C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: Y261C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
128 |
4.82e-6 |
SMART |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081819
AA Change: Y238C
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: Y238C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
128 |
4.82e-6 |
SMART |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109223
AA Change: Y238C
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: Y238C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
128 |
4.82e-6 |
SMART |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to S. mansoni egg challenge. Mice homozygous for an allele lacking the mucin domain display impaired regulatory B cell function and systemic autoimmunity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,158,344 (GRCm39) |
|
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,175,459 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,598,911 (GRCm39) |
V495A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,338,724 (GRCm39) |
|
probably benign |
Het |
| Bora |
A |
G |
14: 99,290,974 (GRCm39) |
D94G |
probably damaging |
Het |
| Bpifb9b |
G |
T |
2: 154,155,544 (GRCm39) |
V348L |
possibly damaging |
Het |
| Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
| Cyp2d11 |
A |
C |
15: 82,274,265 (GRCm39) |
I372S |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,044,559 (GRCm39) |
V380D |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,037,088 (GRCm39) |
A3580V |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,548 (GRCm39) |
S1024P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,447,511 (GRCm39) |
E1105K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,268,908 (GRCm39) |
E415V |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,295,588 (GRCm39) |
F224Y |
probably damaging |
Het |
| Gm11146 |
A |
T |
16: 77,385,498 (GRCm39) |
|
probably null |
Het |
| Gsn |
G |
T |
2: 35,192,507 (GRCm39) |
R485L |
probably damaging |
Het |
| Maneal |
A |
T |
4: 124,752,960 (GRCm39) |
I229N |
probably benign |
Het |
| Med24 |
A |
T |
11: 98,619,661 (GRCm39) |
M27K |
probably benign |
Het |
| Nipsnap2 |
T |
A |
5: 129,825,056 (GRCm39) |
|
probably benign |
Het |
| Noa1 |
T |
A |
5: 77,455,426 (GRCm39) |
Q430L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,091,281 (GRCm39) |
S9R |
possibly damaging |
Het |
| Or5d47 |
T |
A |
2: 87,804,754 (GRCm39) |
N85I |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,908 (GRCm39) |
V208A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,527 (GRCm39) |
I92V |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,529 (GRCm39) |
S460R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,922 (GRCm39) |
Q826R |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
| Poldip2 |
T |
A |
11: 78,408,734 (GRCm39) |
F200I |
probably damaging |
Het |
| Prodh2 |
T |
C |
7: 30,205,929 (GRCm39) |
V208A |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,553,635 (GRCm39) |
D89G |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,544,015 (GRCm39) |
S90R |
probably damaging |
Het |
| Slc44a4 |
A |
C |
17: 35,147,637 (GRCm39) |
D441A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,059,014 (GRCm39) |
I174F |
probably damaging |
Het |
| Smim17 |
T |
C |
7: 6,430,160 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,760 (GRCm39) |
E872G |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,406,733 (GRCm38) |
L625S |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,593 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Whrn |
T |
G |
4: 63,353,724 (GRCm39) |
K348Q |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,730,154 (GRCm39) |
V399A |
probably benign |
Het |
|
| Other mutations in Havcr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02207:Havcr1
|
APN |
11 |
46,669,403 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0355:Havcr1
|
UTSW |
11 |
46,647,051 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0371:Havcr1
|
UTSW |
11 |
46,643,416 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0488:Havcr1
|
UTSW |
11 |
46,643,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Havcr1
|
UTSW |
11 |
46,643,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1307:Havcr1
|
UTSW |
11 |
46,647,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1308:Havcr1
|
UTSW |
11 |
46,647,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1554:Havcr1
|
UTSW |
11 |
46,643,334 (GRCm39) |
missense |
probably benign |
|
|
R1908:Havcr1
|
UTSW |
11 |
46,664,511 (GRCm39) |
nonsense |
probably null |
|
|
R2165:Havcr1
|
UTSW |
11 |
46,669,379 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3085:Havcr1
|
UTSW |
11 |
46,647,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3757:Havcr1
|
UTSW |
11 |
46,643,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Havcr1
|
UTSW |
11 |
46,643,268 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5191:Havcr1
|
UTSW |
11 |
46,647,024 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5440:Havcr1
|
UTSW |
11 |
46,643,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5710:Havcr1
|
UTSW |
11 |
46,643,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Havcr1
|
UTSW |
11 |
46,646,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Havcr1
|
UTSW |
11 |
46,661,369 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7962:Havcr1
|
UTSW |
11 |
46,643,402 (GRCm39) |
nonsense |
probably null |
|
|
R8953:Havcr1
|
UTSW |
11 |
46,647,006 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9259:Havcr1
|
UTSW |
11 |
46,661,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Havcr1
|
UTSW |
11 |
46,669,391 (GRCm39) |
missense |
probably benign |
|
|
R9576:Havcr1
|
UTSW |
11 |
46,669,391 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Havcr1
|
UTSW |
11 |
46,666,325 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2015-04-16 |
Incidental Mutation