Incidental Mutation 'IGL02861:Cd72'
ID |
362144 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd72
|
Ensembl Gene |
ENSMUSG00000028459 |
Gene Name |
CD72 antigen |
Synonyms |
Ly-m19, Ly-19, Ly-32, Lyb-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
IGL02861
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43447724-43454720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43448332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 316
(A316V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030179]
[ENSMUST00000060864]
[ENSMUST00000098104]
[ENSMUST00000098105]
[ENSMUST00000107925]
[ENSMUST00000107926]
[ENSMUST00000138981]
|
AlphaFold |
P21855 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030179
AA Change: A340V
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000030179 Gene: ENSMUSG00000028459 AA Change: A340V
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
CLECT
|
232 |
348 |
2.28e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060864
|
SMART Domains |
Protein: ENSMUSP00000050087 Gene: ENSMUSG00000028458
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
52 |
306 |
5.4e-46 |
PFAM |
Pfam:Pkinase_Tyr
|
52 |
306 |
3.1e-47 |
PFAM |
low complexity region
|
316 |
330 |
N/A |
INTRINSIC |
low complexity region
|
345 |
370 |
N/A |
INTRINSIC |
low complexity region
|
403 |
424 |
N/A |
INTRINSIC |
low complexity region
|
472 |
490 |
N/A |
INTRINSIC |
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098104
AA Change: A279V
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000095708 Gene: ENSMUSG00000028459 AA Change: A279V
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
coiled coil region
|
83 |
169 |
N/A |
INTRINSIC |
CLECT
|
178 |
287 |
2.48e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098105
AA Change: A316V
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095709 Gene: ENSMUSG00000028459 AA Change: A316V
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
199 |
N/A |
INTRINSIC |
CLECT
|
208 |
324 |
2.28e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107925
AA Change: A326V
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103558 Gene: ENSMUSG00000028459 AA Change: A326V
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
CLECT
|
232 |
334 |
2.65e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107926
AA Change: A333V
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103559 Gene: ENSMUSG00000028459 AA Change: A333V
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
CLECT
|
232 |
341 |
2.48e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133110
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156810
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137178
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138981
|
SMART Domains |
Protein: ENSMUSP00000121067 Gene: ENSMUSG00000028458
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
52 |
174 |
7.6e-29 |
PFAM |
Pfam:Pkinase_Tyr
|
52 |
175 |
1.5e-26 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in impaired B cell development and delayed maturation, resulting in reduced numbers of mature B cells and an expansion of pre-B cells. Mice have fewer peripheral mature B-2 cells and more B-1 cells. B cells are hyperproliferative in response to stimuli. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
T |
13: 61,001,146 (GRCm39) |
|
probably benign |
Het |
6430548M08Rik |
G |
A |
8: 120,876,863 (GRCm39) |
R157H |
probably damaging |
Het |
Amer3 |
A |
G |
1: 34,627,206 (GRCm39) |
K482E |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,622,566 (GRCm39) |
S429T |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,569,157 (GRCm39) |
N125I |
probably damaging |
Het |
BC106179 |
T |
A |
16: 23,042,746 (GRCm39) |
|
probably benign |
Het |
Bclaf3 |
T |
C |
X: 158,338,524 (GRCm39) |
I457T |
possibly damaging |
Het |
Cbr3 |
T |
G |
16: 93,482,007 (GRCm39) |
V121G |
probably damaging |
Het |
Cd44 |
A |
G |
2: 102,662,826 (GRCm39) |
|
probably null |
Het |
Cdc27 |
A |
T |
11: 104,413,657 (GRCm39) |
|
probably benign |
Het |
Cdon |
A |
T |
9: 35,398,253 (GRCm39) |
Q990L |
probably damaging |
Het |
Clk2 |
T |
C |
3: 89,080,706 (GRCm39) |
W231R |
probably damaging |
Het |
Cpsf2 |
G |
A |
12: 101,965,825 (GRCm39) |
V597I |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,042,918 (GRCm39) |
V874A |
probably benign |
Het |
Daam2 |
A |
G |
17: 49,776,455 (GRCm39) |
F811L |
probably damaging |
Het |
Ddx54 |
T |
C |
5: 120,756,195 (GRCm39) |
|
probably benign |
Het |
Dysf |
T |
A |
6: 84,016,519 (GRCm39) |
L59Q |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,476,597 (GRCm39) |
Y601H |
probably damaging |
Het |
Faf2 |
T |
C |
13: 54,796,235 (GRCm39) |
Y131H |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,445,067 (GRCm39) |
D101E |
possibly damaging |
Het |
Hk2 |
T |
C |
6: 82,737,139 (GRCm39) |
T30A |
possibly damaging |
Het |
Il27 |
A |
T |
7: 126,191,821 (GRCm39) |
L77Q |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,298,225 (GRCm39) |
V83D |
possibly damaging |
Het |
Manba |
T |
G |
3: 135,276,024 (GRCm39) |
S822A |
probably benign |
Het |
Mterf2 |
A |
C |
10: 84,956,195 (GRCm39) |
V143G |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,981,195 (GRCm39) |
D895G |
probably benign |
Het |
Or4c115 |
T |
A |
2: 88,927,801 (GRCm39) |
I157L |
probably benign |
Het |
Or6n1 |
T |
A |
1: 173,916,602 (GRCm39) |
|
probably benign |
Het |
Panx1 |
T |
C |
9: 14,919,101 (GRCm39) |
K253E |
probably benign |
Het |
Phc1 |
T |
A |
6: 122,300,748 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,688,208 (GRCm39) |
E250G |
probably damaging |
Het |
Rp1 |
G |
T |
1: 4,416,375 (GRCm39) |
S1579* |
probably null |
Het |
Rrp1 |
A |
G |
10: 78,245,056 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,483,186 (GRCm39) |
L4187P |
possibly damaging |
Het |
Serpinc1 |
A |
T |
1: 160,827,561 (GRCm39) |
I387F |
probably damaging |
Het |
Slc2a7 |
G |
A |
4: 150,252,836 (GRCm39) |
C492Y |
probably benign |
Het |
Slf1 |
A |
G |
13: 77,274,478 (GRCm39) |
|
probably benign |
Het |
Spta1 |
T |
A |
1: 174,039,164 (GRCm39) |
L1169Q |
probably damaging |
Het |
Stap1 |
T |
A |
5: 86,219,824 (GRCm39) |
|
probably benign |
Het |
Taf6 |
A |
G |
5: 138,182,147 (GRCm39) |
L66P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,632,841 (GRCm39) |
E14071G |
probably damaging |
Het |
Unk |
A |
G |
11: 115,947,125 (GRCm39) |
H586R |
possibly damaging |
Het |
Zfpm2 |
A |
C |
15: 40,966,662 (GRCm39) |
K917T |
probably damaging |
Het |
|
Other mutations in Cd72 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00777:Cd72
|
APN |
4 |
43,448,365 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL03208:Cd72
|
APN |
4 |
43,452,337 (GRCm39) |
missense |
probably damaging |
0.99 |
grovel
|
UTSW |
4 |
43,454,515 (GRCm39) |
missense |
possibly damaging |
0.46 |
scrape
|
UTSW |
4 |
43,452,628 (GRCm39) |
missense |
probably damaging |
0.96 |
R0239:Cd72
|
UTSW |
4 |
43,453,163 (GRCm39) |
missense |
probably benign |
0.06 |
R0239:Cd72
|
UTSW |
4 |
43,453,163 (GRCm39) |
missense |
probably benign |
0.06 |
R3848:Cd72
|
UTSW |
4 |
43,452,525 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3971:Cd72
|
UTSW |
4 |
43,449,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R4872:Cd72
|
UTSW |
4 |
43,449,563 (GRCm39) |
unclassified |
probably benign |
|
R5098:Cd72
|
UTSW |
4 |
43,452,610 (GRCm39) |
missense |
probably damaging |
0.97 |
R5471:Cd72
|
UTSW |
4 |
43,448,345 (GRCm39) |
missense |
probably benign |
0.00 |
R5890:Cd72
|
UTSW |
4 |
43,454,475 (GRCm39) |
missense |
probably damaging |
0.98 |
R7132:Cd72
|
UTSW |
4 |
43,452,444 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7478:Cd72
|
UTSW |
4 |
43,454,515 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8152:Cd72
|
UTSW |
4 |
43,452,601 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8159:Cd72
|
UTSW |
4 |
43,450,174 (GRCm39) |
missense |
probably damaging |
0.99 |
R8442:Cd72
|
UTSW |
4 |
43,450,109 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8788:Cd72
|
UTSW |
4 |
43,450,185 (GRCm39) |
missense |
probably benign |
|
R8789:Cd72
|
UTSW |
4 |
43,452,628 (GRCm39) |
missense |
probably damaging |
0.96 |
R8964:Cd72
|
UTSW |
4 |
43,450,218 (GRCm39) |
missense |
probably damaging |
0.99 |
R9331:Cd72
|
UTSW |
4 |
43,454,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9373:Cd72
|
UTSW |
4 |
43,450,141 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9726:Cd72
|
UTSW |
4 |
43,452,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2015-12-18 |