Incidental Mutation 'R6764:Aff4'
| ID |
531827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aff4
|
| Ensembl Gene |
ENSMUSG00000049470 |
| Gene Name |
AF4/FMR2 family, member 4 |
| Synonyms |
Laf4l, Alf4 |
| MMRRC Submission |
044880-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53350833-53421830 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53399830 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 539
(R539L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060945]
|
| AlphaFold |
Q9ESC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060945
AA Change: R539L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: R539L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
2 |
1156 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152616
|
| SMART Domains |
Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
1 |
51 |
4e-15 |
PFAM |
|
Pfam:AF-4
|
46 |
159 |
1.3e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.1312 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020D05Rik |
A |
G |
19: 5,502,872 (GRCm38) |
S294P |
probably damaging |
Het |
| Aox2 |
T |
A |
1: 58,350,282 (GRCm38) |
Y1147N |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,184,101 (GRCm38) |
F423L |
probably damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,284,614 (GRCm38) |
D571E |
probably benign |
Het |
| Bank1 |
A |
G |
3: 136,242,940 (GRCm38) |
S159P |
probably damaging |
Het |
| Bcan |
C |
A |
3: 87,988,378 (GRCm38) |
R817L |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,413,188 (GRCm38) |
S1990P |
possibly damaging |
Het |
| Ccna1 |
G |
A |
3: 55,046,078 (GRCm38) |
T368M |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,130,740 (GRCm38) |
|
probably null |
Het |
| Ctbp1 |
T |
C |
5: 33,259,245 (GRCm38) |
H136R |
possibly damaging |
Het |
| Dner |
T |
G |
1: 84,494,781 (GRCm38) |
D366A |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,961,686 (GRCm38) |
D378E |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,222,944 (GRCm38) |
S1307P |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,989,421 (GRCm38) |
N720K |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,525,215 (GRCm38) |
E667G |
unknown |
Het |
| Gm4846 |
A |
G |
1: 166,491,552 (GRCm38) |
C206R |
probably benign |
Het |
| Grpel1 |
G |
A |
5: 36,465,225 (GRCm38) |
R11H |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,284,044 (GRCm38) |
Y55C |
probably damaging |
Het |
| Hephl1 |
G |
A |
9: 15,088,921 (GRCm38) |
T345I |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,212,779 (GRCm38) |
K1150N |
probably benign |
Het |
| Itga4 |
C |
A |
2: 79,325,614 (GRCm38) |
H975N |
probably benign |
Het |
| Musk |
T |
C |
4: 58,354,027 (GRCm38) |
V360A |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,402,889 (GRCm38) |
|
probably benign |
Het |
| Ninj2 |
G |
T |
6: 120,198,050 (GRCm38) |
A51S |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,090,679 (GRCm38) |
Y182H |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 72,051,233 (GRCm38) |
F916S |
probably damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,199,799 (GRCm38) |
M194L |
probably benign |
Het |
| Sigirr |
C |
T |
7: 141,093,242 (GRCm38) |
V99I |
probably benign |
Het |
| Smco2 |
A |
G |
6: 146,871,329 (GRCm38) |
D343G |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,792,181 (GRCm38) |
I584T |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,229,011 (GRCm38) |
Q4488* |
probably null |
Het |
| Tbc1d24 |
A |
C |
17: 24,185,780 (GRCm38) |
F130C |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,844,420 (GRCm38) |
V296A |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,890,448 (GRCm38) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,346,072 (GRCm38) |
D311G |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,903,271 (GRCm38) |
S854P |
probably damaging |
Het |
| Zfp330 |
C |
T |
8: 82,767,305 (GRCm38) |
C109Y |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,674,718 (GRCm38) |
G498D |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,215,169 (GRCm38) |
D29G |
probably damaging |
Het |
|
| Other mutations in Aff4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Aff4
|
APN |
11 |
53,411,990 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01348:Aff4
|
APN |
11 |
53,402,500 (GRCm38) |
missense |
probably benign |
|
|
IGL01446:Aff4
|
APN |
11 |
53,415,469 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02151:Aff4
|
APN |
11 |
53,399,806 (GRCm38) |
missense |
probably benign |
|
|
IGL02526:Aff4
|
APN |
11 |
53,406,682 (GRCm38) |
splice site |
probably benign |
|
|
IGL02567:Aff4
|
APN |
11 |
53,372,751 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02633:Aff4
|
APN |
11 |
53,409,371 (GRCm38) |
splice site |
probably benign |
|
|
IGL02707:Aff4
|
APN |
11 |
53,399,740 (GRCm38) |
missense |
probably benign |
|
|
R0090:Aff4
|
UTSW |
11 |
53,392,782 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0128:Aff4
|
UTSW |
11 |
53,415,466 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0243:Aff4
|
UTSW |
11 |
53,397,858 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R0345:Aff4
|
UTSW |
11 |
53,372,881 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0347:Aff4
|
UTSW |
11 |
53,400,088 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0732:Aff4
|
UTSW |
11 |
53,375,596 (GRCm38) |
missense |
probably benign |
|
|
R0737:Aff4
|
UTSW |
11 |
53,410,953 (GRCm38) |
nonsense |
probably null |
|
|
R1464:Aff4
|
UTSW |
11 |
53,372,524 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1464:Aff4
|
UTSW |
11 |
53,372,524 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1500:Aff4
|
UTSW |
11 |
53,372,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1693:Aff4
|
UTSW |
11 |
53,396,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1743:Aff4
|
UTSW |
11 |
53,368,695 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1961:Aff4
|
UTSW |
11 |
53,372,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2048:Aff4
|
UTSW |
11 |
53,398,385 (GRCm38) |
missense |
probably benign |
0.39 |
|
R2138:Aff4
|
UTSW |
11 |
53,372,512 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2155:Aff4
|
UTSW |
11 |
53,399,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2379:Aff4
|
UTSW |
11 |
53,408,478 (GRCm38) |
splice site |
probably benign |
|
|
R4156:Aff4
|
UTSW |
11 |
53,410,899 (GRCm38) |
intron |
probably benign |
|
|
R5001:Aff4
|
UTSW |
11 |
53,404,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5281:Aff4
|
UTSW |
11 |
53,372,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5477:Aff4
|
UTSW |
11 |
53,408,472 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5677:Aff4
|
UTSW |
11 |
53,400,275 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5992:Aff4
|
UTSW |
11 |
53,373,010 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6576:Aff4
|
UTSW |
11 |
53,400,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6988:Aff4
|
UTSW |
11 |
53,398,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7034:Aff4
|
UTSW |
11 |
53,408,409 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7177:Aff4
|
UTSW |
11 |
53,406,639 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7426:Aff4
|
UTSW |
11 |
53,372,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7755:Aff4
|
UTSW |
11 |
53,398,379 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7848:Aff4
|
UTSW |
11 |
53,404,512 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7968:Aff4
|
UTSW |
11 |
53,409,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8159:Aff4
|
UTSW |
11 |
53,411,894 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8218:Aff4
|
UTSW |
11 |
53,398,257 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8241:Aff4
|
UTSW |
11 |
53,400,171 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8284:Aff4
|
UTSW |
11 |
53,404,552 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8373:Aff4
|
UTSW |
11 |
53,400,267 (GRCm38) |
nonsense |
probably null |
|
|
R8695:Aff4
|
UTSW |
11 |
53,368,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8777:Aff4
|
UTSW |
11 |
53,399,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Aff4
|
UTSW |
11 |
53,399,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8780:Aff4
|
UTSW |
11 |
53,380,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8798:Aff4
|
UTSW |
11 |
53,400,508 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R8838:Aff4
|
UTSW |
11 |
53,406,638 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8939:Aff4
|
UTSW |
11 |
53,372,404 (GRCm38) |
missense |
probably benign |
|
|
R9146:Aff4
|
UTSW |
11 |
53,408,136 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9329:Aff4
|
UTSW |
11 |
53,397,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9378:Aff4
|
UTSW |
11 |
53,372,479 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9471:Aff4
|
UTSW |
11 |
53,380,646 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9779:Aff4
|
UTSW |
11 |
53,372,907 (GRCm38) |
nonsense |
probably null |
|
|
R9796:Aff4
|
UTSW |
11 |
53,411,997 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTCCTCTGTAGACAGC -3'
(R):5'- GGTCGAGGAGAAGATTTTGATTCC -3'
Sequencing Primer
(F):5'- GCTTCCTCTGTAGACAGCAACATC -3'
(R):5'- ATGTTGGGTTTCCTCGAGCCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation