Incidental Mutation 'R6589:Tafa2'
| ID |
524519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tafa2
|
| Ensembl Gene |
ENSMUSG00000044071 |
| Gene Name |
TAFA chemokine like family member 2 |
| Synonyms |
Sam2, Tafa2, Fam19a2, Tafa-2 |
| MMRRC Submission |
044713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R6589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
123099901-123577109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123540297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 51
(V51E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050756]
|
| AlphaFold |
Q7TPG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050756
AA Change: V51E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050199
Gene: ENSMUSG00000044071
AA Change: V51E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAFA
|
45 |
133 |
6.8e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219723
|
| Meta Mutation Damage Score |
0.2085 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (26/26) |
| MGI Phenotype |
FUNCTION: This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased anxiety-like and fear-related behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
G |
A |
13: 112,485,397 (GRCm39) |
|
probably null |
Het |
| Asic2 |
G |
T |
11: 80,777,430 (GRCm39) |
A427D |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,787,117 (GRCm39) |
I24F |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,956 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,523,789 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,196,466 (GRCm39) |
|
probably null |
Het |
| Fam72a |
A |
T |
1: 131,461,554 (GRCm39) |
I80F |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,686 (GRCm39) |
T174A |
probably damaging |
Het |
| Fgf11 |
C |
A |
11: 69,690,261 (GRCm39) |
V109L |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,485,875 (GRCm39) |
I74V |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,296,035 (GRCm39) |
D224G |
probably damaging |
Het |
| Gm6465 |
A |
G |
5: 11,898,128 (GRCm39) |
T81A |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,028 (GRCm39) |
E908G |
probably damaging |
Het |
| Hspa4l |
T |
G |
3: 40,711,487 (GRCm39) |
L121V |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,894 (GRCm39) |
D232G |
probably benign |
Het |
| Lpl |
G |
T |
8: 69,349,459 (GRCm39) |
M328I |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,483,976 (GRCm39) |
E498G |
probably damaging |
Het |
| Mup11 |
T |
A |
4: 60,615,540 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Myoc |
T |
A |
1: 162,476,188 (GRCm39) |
Y297* |
probably null |
Het |
| Or14j5 |
T |
A |
17: 38,161,727 (GRCm39) |
Y81* |
probably null |
Het |
| Semp2l1 |
A |
T |
1: 32,585,792 (GRCm39) |
D39E |
probably benign |
Het |
| Siva1 |
A |
G |
12: 112,613,272 (GRCm39) |
E40G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,284 (GRCm39) |
H55Q |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,606,527 (GRCm39) |
E449G |
possibly damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,995 (GRCm39) |
N252K |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,167 (GRCm39) |
L404P |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,642 (GRCm39) |
T613A |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,022 (GRCm39) |
S142T |
possibly damaging |
Het |
| Zfp358 |
T |
A |
8: 3,545,907 (GRCm39) |
F163Y |
probably damaging |
Het |
|
| Other mutations in Tafa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
dolorous
|
UTSW |
10 |
123,540,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lugubrious
|
UTSW |
10 |
123,429,401 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0395:Tafa2
|
UTSW |
10 |
123,429,497 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1478:Tafa2
|
UTSW |
10 |
123,429,401 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2869:Tafa2
|
UTSW |
10 |
123,540,270 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2869:Tafa2
|
UTSW |
10 |
123,540,270 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2870:Tafa2
|
UTSW |
10 |
123,540,270 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2870:Tafa2
|
UTSW |
10 |
123,540,270 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2873:Tafa2
|
UTSW |
10 |
123,540,270 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6537:Tafa2
|
UTSW |
10 |
123,429,401 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6972:Tafa2
|
UTSW |
10 |
123,540,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9043:Tafa2
|
UTSW |
10 |
123,540,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Tafa2
|
UTSW |
10 |
123,429,421 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATGGAAATGGTCTCTGCAC -3'
(R):5'- ATTATAGTGGGGTTCCGATTCC -3'
Sequencing Primer
(F):5'- ACCTGCATTATGGAGTCGAC -3'
(R):5'- TGGGGTTCCGATTCCAACCATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation