Incidental Mutation 'R6577:Cd27'
| ID |
523540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd27
|
| Ensembl Gene |
ENSMUSG00000030336 |
| Gene Name |
CD27 antigen |
| Synonyms |
Tnfrsf7, S152, Cd27, Tp55 |
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125209585-125213973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125213756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 34
(T34A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032486]
[ENSMUST00000043422]
[ENSMUST00000063588]
[ENSMUST00000112281]
[ENSMUST00000112282]
|
| AlphaFold |
P41272 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032486
AA Change: T34A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032486
Gene: ENSMUSG00000030336
AA Change: T34A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TNFR
|
27 |
62 |
1.11e-2 |
SMART |
|
TNFR
|
65 |
104 |
1.23e-4 |
SMART |
|
low complexity region
|
131 |
147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043422
|
| SMART Domains |
Protein: ENSMUSP00000047105
Gene: ENSMUSG00000038213
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
202 |
306 |
1.11e-5 |
SMART |
|
IGc1
|
321 |
397 |
3.97e-7 |
SMART |
|
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063588
|
| SMART Domains |
Protein: ENSMUSP00000063466
Gene: ENSMUSG00000030337
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
|
Pfam:Synaptobrevin
|
30 |
118 |
5.4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112281
AA Change: T34A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107900
Gene: ENSMUSG00000030336
AA Change: T34A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TNFR
|
27 |
62 |
1.11e-2 |
SMART |
|
Blast:TNFR
|
65 |
100 |
4e-10 |
BLAST |
|
transmembrane domain
|
120 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000112282
AA Change: T34A
|
| SMART Domains |
Protein: ENSMUSP00000107901
Gene: ENSMUSG00000030336
AA Change: T34A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:TNFR
|
27 |
45 |
1e-6 |
BLAST |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184956
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a normal phenotype. However, T-cell development immune responses are abnormal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
probably benign |
Het |
|
| Other mutations in Cd27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02222:Cd27
|
APN |
6 |
125,211,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2358:Cd27
|
UTSW |
6 |
125,210,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3704:Cd27
|
UTSW |
6 |
125,210,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3711:Cd27
|
UTSW |
6 |
125,210,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4305:Cd27
|
UTSW |
6 |
125,211,633 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4872:Cd27
|
UTSW |
6 |
125,211,281 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5369:Cd27
|
UTSW |
6 |
125,211,327 (GRCm39) |
intron |
probably benign |
|
|
R5762:Cd27
|
UTSW |
6 |
125,213,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Cd27
|
UTSW |
6 |
125,210,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Cd27
|
UTSW |
6 |
125,210,325 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8162:Cd27
|
UTSW |
6 |
125,210,188 (GRCm39) |
splice site |
probably null |
|
|
R8924:Cd27
|
UTSW |
6 |
125,213,432 (GRCm39) |
intron |
probably benign |
|
|
R9334:Cd27
|
UTSW |
6 |
125,213,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9785:Cd27
|
UTSW |
6 |
125,213,945 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCACACTGAGCAGCTGTTCTG -3'
(R):5'- ACATAGGAGCCACCAGTGAC -3'
Sequencing Primer
(F):5'- GTCCTTCACAAAGAATGTACCTGAG -3'
(R):5'- TGACTCGGTACAAGCAGTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation