Incidental Mutation 'R1307:Havcr1'
| ID |
157838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Havcr1
|
| Ensembl Gene |
ENSMUSG00000040405 |
| Gene Name |
hepatitis A virus cellular receptor 1 |
| Synonyms |
Timd1, Tim1, TIM-1, KIM-1 |
| MMRRC Submission |
039373-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
46630644-46670405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46647097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 177
(T177I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047568]
[ENSMUST00000081819]
[ENSMUST00000109223]
[ENSMUST00000109224]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047568
AA Change: T177I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: T177I
| 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 |
possibly damaging
Transcript: ENSMUST00000081819
AA Change: T177I
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: T177I
| 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 |
possibly damaging
Transcript: ENSMUST00000109223
AA Change: T177I
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: T177I
| 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: ENSMUST00000109224
|
| SMART Domains |
Protein: ENSMUSP00000104847
Gene: ENSMUSG00000040405
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
128 |
4.82e-6 |
SMART |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 91.4%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc1 |
A |
T |
10: 59,848,321 (GRCm39) |
I83L |
probably benign |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,543 (GRCm39) |
V44A |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,186,271 (GRCm39) |
D1727G |
possibly damaging |
Het |
| Cabp1 |
A |
G |
5: 115,310,965 (GRCm39) |
F294L |
probably damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,016 (GRCm39) |
M365K |
probably damaging |
Het |
| Gk2 |
A |
T |
5: 97,603,268 (GRCm39) |
D523E |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 118,032,839 (GRCm39) |
T76A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,946,028 (GRCm39) |
I804F |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,336,314 (GRCm39) |
N876S |
probably benign |
Het |
| Polr3f |
T |
C |
2: 144,375,113 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,163,895 (GRCm39) |
V389A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,258,378 (GRCm39) |
E151G |
probably damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,655,470 (GRCm39) |
N135S |
probably benign |
Het |
| Sphk1 |
G |
A |
11: 116,426,928 (GRCm39) |
V295I |
probably benign |
Het |
| Sv2b |
G |
T |
7: 74,856,182 (GRCm39) |
T36K |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,538,786 (GRCm39) |
E291G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,927,096 (GRCm39) |
E810G |
probably damaging |
Het |
| Uba52 |
T |
C |
8: 70,961,166 (GRCm39) |
H68R |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,036,335 (GRCm39) |
N552S |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,164 (GRCm39) |
C416R |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,037 (GRCm39) |
V1447A |
probably damaging |
Het |
| Zfp985 |
C |
T |
4: 147,667,704 (GRCm39) |
L191F |
probably benign |
Het |
|
| Other mutations in Havcr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02119:Havcr1
|
APN |
11 |
46,666,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCGAAGCTCTTGTCACTTCTTGC -3'
(R):5'- AGTGGCCCTGGTTCTCAGTCATTC -3'
Sequencing Primer
(F):5'- TGCCTGACTCATCCTTGC -3'
(R):5'- TTCATCAGAGAGTCATGCCCAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation