Incidental Mutation 'R3757:Havcr1'
ID |
271486 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3757 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
46630644-46670405 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 46643407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 109
(R109L)
|
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: R109L
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000043827 Gene: ENSMUSG00000040405 AA Change: R109L
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: R109L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080503 Gene: ENSMUSG00000040405 AA Change: R109L
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: R109L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104846 Gene: ENSMUSG00000040405 AA Change: R109L
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: R109L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104847 Gene: ENSMUSG00000040405 AA Change: R109L
Domain | Start | End | E-Value | Type |
IG
|
22 |
128 |
4.82e-6 |
SMART |
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6162 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
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 |
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 |
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'- TCGTGGAATCACAACGACATG -3'
(R):5'- GCCACAAGATACATGAGATTATGTC -3'
Sequencing Primer
(F):5'- AACGACATGTTGGGGCC -3'
(R):5'- AAGCAAGTGTTTAATCATCAACATG -3'
|
Posted On |
2015-03-18 |