Incidental Mutation 'R5390:Clec4g'
ID |
425518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clec4g
|
Ensembl Gene |
ENSMUSG00000074491 |
Gene Name |
C-type lectin domain family 4, member g |
Synonyms |
4930572L20Rik |
MMRRC Submission |
042962-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5390 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
3757064-3770651 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 3768441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 97
(V97L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059574
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058040]
[ENSMUST00000062037]
|
AlphaFold |
Q8BNX1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058040
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062037
AA Change: V97L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000059574 Gene: ENSMUSG00000074491 AA Change: V97L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
98 |
153 |
N/A |
INTRINSIC |
CLECT
|
165 |
288 |
8.85e-35 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159612
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160527
|
SMART Domains |
Protein: ENSMUSP00000124493 Gene: ENSMUSG00000074491
Domain | Start | End | E-Value | Type |
CLECT
|
2 |
97 |
7.75e-8 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased intrahepatic T cell immunity, enhanced immune-mediated liver injury during Con A-induced experimental acute hepatitis, and accelerated CTL-dependent adenovirus clearance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5830454E08Rik |
T |
C |
9: 120,406,772 (GRCm39) |
|
probably benign |
Het |
Anxa4 |
G |
A |
6: 86,730,865 (GRCm39) |
T104M |
probably damaging |
Het |
BC048562 |
G |
T |
9: 108,313,777 (GRCm39) |
W9L |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,838,203 (GRCm39) |
M822K |
probably damaging |
Het |
Ddx19a |
G |
A |
8: 111,707,263 (GRCm39) |
Q176* |
probably null |
Het |
Eml6 |
T |
C |
11: 29,710,096 (GRCm39) |
H1413R |
probably damaging |
Het |
Fam161b |
C |
T |
12: 84,395,408 (GRCm39) |
V512M |
probably damaging |
Het |
Glcci1 |
A |
T |
6: 8,537,835 (GRCm39) |
Q151L |
probably benign |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gpnmb |
A |
T |
6: 49,024,775 (GRCm39) |
D269V |
probably damaging |
Het |
Gpx3 |
A |
T |
11: 54,800,375 (GRCm39) |
D191V |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,653,712 (GRCm39) |
C491Y |
probably damaging |
Het |
H2-M10.4 |
T |
A |
17: 36,771,533 (GRCm39) |
H215L |
probably damaging |
Het |
Hrc |
T |
A |
7: 44,984,909 (GRCm39) |
L20Q |
probably damaging |
Het |
Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
Hydin |
A |
T |
8: 111,322,099 (GRCm39) |
I4584L |
probably benign |
Het |
Ift70a2 |
A |
T |
2: 75,807,630 (GRCm39) |
L294Q |
probably damaging |
Het |
Ints5 |
T |
A |
19: 8,873,931 (GRCm39) |
I630K |
possibly damaging |
Het |
Kctd10 |
A |
G |
5: 114,503,764 (GRCm39) |
I296T |
possibly damaging |
Het |
Ltv1 |
G |
A |
10: 13,058,103 (GRCm39) |
R234C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,546 (GRCm39) |
S1507P |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
Ms4a4d |
T |
C |
19: 11,526,004 (GRCm39) |
|
probably null |
Het |
Net1 |
C |
T |
13: 3,943,379 (GRCm39) |
A3T |
probably benign |
Het |
Nlrp2 |
T |
C |
7: 5,303,908 (GRCm39) |
M206V |
probably benign |
Het |
Or1j1 |
C |
T |
2: 36,702,444 (GRCm39) |
R220H |
probably benign |
Het |
Or5an1b |
T |
A |
19: 12,299,505 (GRCm39) |
I229F |
probably damaging |
Het |
Pcyox1l |
T |
C |
18: 61,832,433 (GRCm39) |
I205V |
probably benign |
Het |
Pigo |
A |
G |
4: 43,019,645 (GRCm39) |
|
probably null |
Het |
Pla2g6 |
A |
T |
15: 79,173,893 (GRCm39) |
S590T |
possibly damaging |
Het |
Pwp2 |
T |
C |
10: 78,013,605 (GRCm39) |
T539A |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,079 (GRCm39) |
T688A |
probably benign |
Het |
Senp7 |
A |
G |
16: 55,990,279 (GRCm39) |
T676A |
probably benign |
Het |
Slc26a6 |
T |
C |
9: 108,738,499 (GRCm39) |
|
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,272,778 (GRCm39) |
H653R |
probably damaging |
Het |
Stk3 |
T |
A |
15: 35,114,706 (GRCm39) |
K67* |
probably null |
Het |
Tctn2 |
A |
ACC |
5: 124,762,400 (GRCm39) |
|
probably benign |
Homo |
Ttn |
T |
C |
2: 76,540,395 (GRCm39) |
Y34197C |
probably damaging |
Het |
Ufc1 |
A |
C |
1: 171,117,746 (GRCm39) |
L56R |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,394,202 (GRCm39) |
|
probably null |
Het |
Vnn3 |
T |
A |
10: 23,727,483 (GRCm39) |
M1K |
probably null |
Het |
Zfp653 |
C |
A |
9: 21,969,099 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Clec4g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00566:Clec4g
|
APN |
8 |
3,766,410 (GRCm39) |
intron |
probably benign |
|
IGL01090:Clec4g
|
APN |
8 |
3,769,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01331:Clec4g
|
APN |
8 |
3,767,190 (GRCm39) |
splice site |
probably benign |
|
IGL01593:Clec4g
|
APN |
8 |
3,769,474 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02942:Clec4g
|
APN |
8 |
3,768,356 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03176:Clec4g
|
APN |
8 |
3,768,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
bluedog
|
UTSW |
8 |
3,768,766 (GRCm39) |
critical splice donor site |
probably null |
|
R0071:Clec4g
|
UTSW |
8 |
3,767,489 (GRCm39) |
start gained |
probably benign |
|
R0379:Clec4g
|
UTSW |
8 |
3,768,440 (GRCm39) |
missense |
probably benign |
0.00 |
R4571:Clec4g
|
UTSW |
8 |
3,768,766 (GRCm39) |
critical splice donor site |
probably null |
|
R4854:Clec4g
|
UTSW |
8 |
3,766,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R4856:Clec4g
|
UTSW |
8 |
3,766,419 (GRCm39) |
intron |
probably benign |
|
R4886:Clec4g
|
UTSW |
8 |
3,766,419 (GRCm39) |
intron |
probably benign |
|
R5370:Clec4g
|
UTSW |
8 |
3,768,344 (GRCm39) |
missense |
probably benign |
0.13 |
R6522:Clec4g
|
UTSW |
8 |
3,768,803 (GRCm39) |
missense |
probably benign |
0.11 |
R6737:Clec4g
|
UTSW |
8 |
3,757,716 (GRCm39) |
utr 3 prime |
probably benign |
|
R7097:Clec4g
|
UTSW |
8 |
3,769,518 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7834:Clec4g
|
UTSW |
8 |
3,766,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R8372:Clec4g
|
UTSW |
8 |
3,757,990 (GRCm39) |
utr 3 prime |
probably benign |
|
R9297:Clec4g
|
UTSW |
8 |
3,766,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R9312:Clec4g
|
UTSW |
8 |
3,768,371 (GRCm39) |
missense |
probably null |
1.00 |
R9318:Clec4g
|
UTSW |
8 |
3,766,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R9517:Clec4g
|
UTSW |
8 |
3,767,452 (GRCm39) |
missense |
probably damaging |
0.98 |
R9526:Clec4g
|
UTSW |
8 |
3,768,565 (GRCm39) |
missense |
probably benign |
0.33 |
R9682:Clec4g
|
UTSW |
8 |
3,757,713 (GRCm39) |
missense |
unknown |
|
Z1088:Clec4g
|
UTSW |
8 |
3,766,548 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Clec4g
|
UTSW |
8 |
3,757,796 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTACCAAGAAGCGGTGTGG -3'
(R):5'- GGTAGTGAATAGCTGAGGCC -3'
Sequencing Primer
(F):5'- TACCAAGAAGCGGTGTGGCTATG -3'
(R):5'- TTTCCAGCCTCAGAGCAGAAGATG -3'
|
Posted On |
2016-08-04 |