Incidental Mutation 'R1308:Havcr1'
ID |
157861 |
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 |
039374-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1308 (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: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.3%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
Jph1 |
A |
G |
1: 17,161,918 (GRCm39) |
I248T |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,026,564 (GRCm39) |
L230P |
probably damaging |
Het |
Lmnb1 |
A |
G |
18: 56,861,547 (GRCm39) |
K146R |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
R3hdml |
G |
T |
2: 163,344,319 (GRCm39) |
C236F |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syt12 |
A |
T |
19: 4,510,763 (GRCm39) |
V37E |
probably damaging |
Het |
Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,148,646 (GRCm39) |
T116A |
probably damaging |
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 |
R1307: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 |