Incidental Mutation 'R6589:Fam72a'
| ID |
524491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam72a
|
| Ensembl Gene |
ENSMUSG00000055184 |
| Gene Name |
family with sequence similarity 72, member A |
| Synonyms |
2700049P18Rik, P17 |
| MMRRC Submission |
044713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6589 (G1)
|
| Quality Score |
223.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131455641-131467610 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131461554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 80
(I80F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068613]
|
| AlphaFold |
Q8BFZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068613
AA Change: I80F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068111
Gene: ENSMUSG00000055184
AA Change: I80F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM72
|
5 |
149 |
3.9e-84 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (26/26) |
| 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 |
| 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 |
| Tafa2 |
T |
A |
10: 123,540,297 (GRCm39) |
V51E |
probably 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 Fam72a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01619:Fam72a
|
APN |
1 |
131,461,650 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0548:Fam72a
|
UTSW |
1 |
131,461,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0943:Fam72a
|
UTSW |
1 |
131,456,517 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1037:Fam72a
|
UTSW |
1 |
131,461,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Fam72a
|
UTSW |
1 |
131,466,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Fam72a
|
UTSW |
1 |
131,458,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2508:Fam72a
|
UTSW |
1 |
131,456,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7402:Fam72a
|
UTSW |
1 |
131,466,614 (GRCm39) |
nonsense |
probably null |
|
|
R7402:Fam72a
|
UTSW |
1 |
131,466,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Fam72a
|
UTSW |
1 |
131,456,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Fam72a
|
UTSW |
1 |
131,461,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Fam72a
|
UTSW |
1 |
131,461,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Fam72a
|
UTSW |
1 |
131,458,461 (GRCm39) |
nonsense |
probably null |
|
|
R8861:Fam72a
|
UTSW |
1 |
131,466,656 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8932:Fam72a
|
UTSW |
1 |
131,456,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTAGCCTTCGATGAGAGC -3'
(R):5'- CCAGTCTAGCTGTGAATGTTGC -3'
Sequencing Primer
(F):5'- AAATAATGTAAGCGAAGAAATGCAG -3'
(R):5'- AATGTTGCAGGGGTTCCCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation