Incidental Mutation 'R0943:Fam72a'
| ID |
81949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam72a
|
| Ensembl Gene |
ENSMUSG00000055184 |
| Gene Name |
family with sequence similarity 72, member A |
| Synonyms |
2700049P18Rik, P17 |
| MMRRC Submission |
039082-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131455641-131467610 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131456517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068613]
[ENSMUST00000097588]
[ENSMUST00000186543]
|
| AlphaFold |
Q8BFZ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068613
AA Change: S27P
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068111
Gene: ENSMUSG00000055184
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM72
|
5 |
149 |
3.9e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097588
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
22 |
120 |
7.33e-18 |
SMART |
|
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
|
coiled coil region
|
363 |
401 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
445 |
490 |
7e-12 |
BLAST |
|
RhoGAP
|
502 |
676 |
9.6e-60 |
SMART |
|
SH3
|
731 |
786 |
4.52e-15 |
SMART |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
coiled coil region
|
940 |
967 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186543
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
22 |
120 |
3.7e-20 |
SMART |
|
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
|
coiled coil region
|
363 |
401 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
445 |
490 |
7e-12 |
BLAST |
|
RhoGAP
|
502 |
676 |
5.9e-62 |
SMART |
|
SH3
|
731 |
786 |
2.8e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189893
|
| Meta Mutation Damage Score |
0.0827 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
C |
13: 59,648,416 (GRCm39) |
N468S |
probably benign |
Het |
| Card6 |
A |
G |
15: 5,129,768 (GRCm39) |
S543P |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,787,489 (GRCm39) |
T2750P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,539,135 (GRCm39) |
M2341T |
probably damaging |
Het |
| Dym |
A |
G |
18: 75,419,840 (GRCm39) |
*670W |
probably null |
Het |
| Ehbp1 |
T |
C |
11: 22,045,883 (GRCm39) |
D597G |
probably benign |
Het |
| Emx1 |
G |
A |
6: 85,180,901 (GRCm39) |
W206* |
probably null |
Het |
| Esr1 |
A |
G |
10: 4,696,781 (GRCm39) |
K210R |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
T |
2: 85,319,109 (GRCm39) |
D398N |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,000,925 (GRCm39) |
C1152S |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,874,402 (GRCm39) |
V2276I |
probably benign |
Het |
| Hoxb13 |
A |
G |
11: 96,086,799 (GRCm39) |
E202G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,662 (GRCm39) |
|
probably null |
Het |
| Nars2 |
C |
T |
7: 96,605,138 (GRCm39) |
|
probably benign |
Het |
| Neil3 |
ATATTTATTTATTTATTTATTTATTTATTTATT |
ATATTTATTTATTTATTTATTTATTTATTTATTTATT |
8: 54,062,404 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,850,248 (GRCm39) |
|
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,305 (GRCm39) |
V45A |
probably benign |
Het |
| Or5b112 |
C |
A |
19: 13,319,157 (GRCm39) |
H12N |
probably benign |
Het |
| Prkar2a |
T |
C |
9: 108,610,475 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,038,902 (GRCm39) |
T209A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf26rt |
T |
C |
6: 76,473,398 (GRCm39) |
H406R |
probably benign |
Het |
| Rprd2 |
C |
T |
3: 95,691,559 (GRCm39) |
V239I |
possibly damaging |
Het |
| Sgo2b |
A |
G |
8: 64,384,369 (GRCm39) |
F209S |
possibly damaging |
Het |
| Shfl |
A |
T |
9: 20,784,258 (GRCm39) |
H160L |
possibly damaging |
Het |
| Spry2 |
T |
C |
14: 106,131,021 (GRCm39) |
Y55C |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,037,243 (GRCm39) |
V667E |
probably benign |
Het |
| Tbrg4 |
A |
G |
11: 6,569,008 (GRCm39) |
F388L |
probably damaging |
Het |
| Tmt1a |
T |
C |
15: 100,202,839 (GRCm39) |
Y20H |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,033,356 (GRCm39) |
T351A |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,371,781 (GRCm39) |
N969S |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,397 (GRCm39) |
C375* |
probably null |
Het |
| Vps45 |
T |
A |
3: 95,964,336 (GRCm39) |
I62F |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,663,667 (GRCm39) |
F388L |
probably benign |
Het |
| Zfp735 |
A |
G |
11: 73,602,909 (GRCm39) |
T618A |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,748,342 (GRCm39) |
R279S |
possibly 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 |
|
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 |
|
|
R6589:Fam72a
|
UTSW |
1 |
131,461,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CGTTGAATCCTACGAAGAAGCCGC -3'
(R):5'- TGTCCAGACAGTCTGCCCACTTAG -3'
Sequencing Primer
(F):5'- GTTTCCCTTTCCACCAGGAAAATAG -3'
(R):5'- TCCAAGGGAATCATCAGACTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation