Incidental Mutation 'R5710:Havcr1'
ID |
452179 |
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 |
044396-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5710 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
46630644-46670405 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46643353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 91
(V91A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104847
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047568]
[ENSMUST00000081819]
[ENSMUST00000109223]
[ENSMUST00000109224]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047568
AA Change: V91A
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043827 Gene: ENSMUSG00000040405 AA Change: V91A
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 damaging
Transcript: ENSMUST00000081819
AA Change: V91A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080503 Gene: ENSMUSG00000040405 AA Change: V91A
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 damaging
Transcript: ENSMUST00000109223
AA Change: V91A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104846 Gene: ENSMUSG00000040405 AA Change: V91A
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 damaging
Transcript: ENSMUST00000109224
AA Change: V91A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104847 Gene: ENSMUSG00000040405 AA Change: V91A
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
G |
A |
14: 68,847,357 (GRCm39) |
H713Y |
probably damaging |
Het |
Adam39 |
A |
T |
8: 41,277,684 (GRCm39) |
Y25F |
probably benign |
Het |
Ankfn1 |
T |
C |
11: 89,394,751 (GRCm39) |
N278S |
probably benign |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgap18 |
G |
A |
10: 26,736,729 (GRCm39) |
|
probably null |
Het |
Bcl2a1b |
A |
C |
9: 89,081,732 (GRCm39) |
Q107P |
probably benign |
Het |
Btbd9 |
A |
G |
17: 30,447,842 (GRCm39) |
S525P |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,482,852 (GRCm39) |
S2093P |
probably benign |
Het |
Ccnd1 |
T |
C |
7: 144,491,781 (GRCm39) |
D86G |
possibly damaging |
Het |
Chdh |
C |
A |
14: 29,756,584 (GRCm39) |
Q337K |
probably damaging |
Het |
Cldn9 |
T |
C |
17: 23,902,421 (GRCm39) |
D68G |
probably damaging |
Het |
Cpt1b |
T |
A |
15: 89,309,409 (GRCm39) |
K41N |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,405,408 (GRCm39) |
Y274H |
probably benign |
Het |
Eif2ak3 |
T |
A |
6: 70,860,717 (GRCm39) |
I431N |
probably damaging |
Het |
Erbb2 |
T |
A |
11: 98,317,906 (GRCm39) |
W416R |
probably damaging |
Het |
Fgd3 |
T |
A |
13: 49,450,205 (GRCm39) |
I15F |
probably benign |
Het |
Fkbp14 |
T |
A |
6: 54,566,255 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,751,987 (GRCm39) |
|
probably benign |
Het |
Lipc |
T |
A |
9: 70,719,979 (GRCm39) |
I343F |
probably benign |
Het |
Madd |
T |
C |
2: 90,984,821 (GRCm39) |
T1331A |
probably damaging |
Het |
Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
Mdga2 |
C |
A |
12: 66,553,556 (GRCm39) |
L98F |
probably damaging |
Het |
Micall1 |
C |
A |
15: 79,011,290 (GRCm39) |
H553Q |
probably damaging |
Het |
Mxd4 |
A |
G |
5: 34,344,671 (GRCm39) |
|
probably null |
Het |
Peg10 |
CC |
CCCCATCAGGC |
6: 4,756,350 (GRCm39) |
|
probably benign |
Het |
Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
Prtg |
T |
A |
9: 72,716,922 (GRCm39) |
Y88N |
probably damaging |
Het |
Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
Sclt1 |
C |
A |
3: 41,618,398 (GRCm39) |
E14* |
probably null |
Het |
Shfl |
G |
T |
9: 20,784,192 (GRCm39) |
R138L |
possibly damaging |
Het |
Strn |
G |
A |
17: 78,995,028 (GRCm39) |
L162F |
probably damaging |
Het |
T |
T |
C |
17: 8,660,474 (GRCm39) |
S221P |
probably benign |
Het |
Tbl1xr1 |
A |
G |
3: 22,264,578 (GRCm39) |
D511G |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,597,674 (GRCm39) |
N82T |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,747,786 (GRCm39) |
R4421H |
possibly damaging |
Het |
Uaca |
T |
A |
9: 60,779,093 (GRCm39) |
L1158Q |
probably damaging |
Het |
Vdr |
T |
C |
15: 97,757,008 (GRCm39) |
Y288C |
probably damaging |
Het |
Vdr |
A |
T |
15: 97,765,089 (GRCm39) |
S217T |
probably benign |
Het |
Zhx2 |
T |
A |
15: 57,684,866 (GRCm39) |
Y78* |
probably null |
Het |
Znhit1 |
C |
T |
5: 137,011,456 (GRCm39) |
C119Y |
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 |
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 |
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'- ACAGGCGCTGTGGATTCTTATG -3'
(R):5'- AGACCTTCAGTTTCCTTGTCATAGG -3'
Sequencing Primer
(F):5'- TGGGTCACCCTGTCACAC -3'
(R):5'- TCAAATTATTAGCAAACAAAAGACCC -3'
|
Posted On |
2017-01-03 |