Incidental Mutation 'R2138:Aff4'
ID |
235980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aff4
|
Ensembl Gene |
ENSMUSG00000049470 |
Gene Name |
AF4/FMR2 family, member 4 |
Synonyms |
Laf4l, Alf4 |
MMRRC Submission |
040141-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2138 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
53241660-53312657 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 53263339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 120
(S120A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060945]
[ENSMUST00000153821]
|
AlphaFold |
Q9ESC8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060945
AA Change: S120A
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000051479 Gene: ENSMUSG00000049470 AA Change: S120A
Domain | Start | End | E-Value | Type |
Pfam:AF-4
|
2 |
1156 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139054
|
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153821
AA Change: S120A
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000120613 Gene: ENSMUSG00000049470 AA Change: S120A
Domain | Start | End | E-Value | Type |
Pfam:AF-4
|
2 |
122 |
4.1e-60 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,323,122 (GRCm39) |
V6A |
probably benign |
Het |
Abcc6 |
A |
G |
7: 45,630,475 (GRCm39) |
F1262L |
probably damaging |
Het |
Acot13 |
A |
T |
13: 25,002,188 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,593,439 (GRCm39) |
I4183V |
probably benign |
Het |
Afp |
A |
G |
5: 90,647,506 (GRCm39) |
E250G |
probably damaging |
Het |
Ankrd34b |
A |
T |
13: 92,575,914 (GRCm39) |
D382V |
probably damaging |
Het |
Arhgef19 |
A |
T |
4: 140,978,111 (GRCm39) |
I577F |
probably damaging |
Het |
Arl6 |
A |
G |
16: 59,442,830 (GRCm39) |
|
probably benign |
Het |
Atp2b2 |
A |
T |
6: 113,773,268 (GRCm39) |
M333K |
probably benign |
Het |
Atp8b3 |
C |
A |
10: 80,362,939 (GRCm39) |
A635S |
possibly damaging |
Het |
Baiap2 |
A |
G |
11: 119,847,928 (GRCm39) |
T19A |
possibly damaging |
Het |
Bcar3 |
A |
G |
3: 122,306,645 (GRCm39) |
D206G |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,457,293 (GRCm39) |
M85K |
probably benign |
Het |
Clec4a4 |
A |
G |
6: 123,000,937 (GRCm39) |
N217D |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,979,088 (GRCm39) |
Y2832C |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,449,189 (GRCm39) |
I962T |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,796,619 (GRCm39) |
Y852C |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
Dusp12 |
G |
A |
1: 170,708,166 (GRCm39) |
Q114* |
probably null |
Het |
Elfn2 |
G |
T |
15: 78,558,238 (GRCm39) |
T103K |
probably benign |
Het |
Eme1 |
A |
T |
11: 94,539,018 (GRCm39) |
V314E |
probably damaging |
Het |
Epb41l3 |
A |
G |
17: 69,514,875 (GRCm39) |
E4G |
probably damaging |
Het |
Exoc6b |
A |
T |
6: 84,966,464 (GRCm39) |
L170Q |
probably damaging |
Het |
Fbln5 |
C |
T |
12: 101,728,179 (GRCm39) |
M261I |
probably benign |
Het |
Fgf22 |
T |
C |
10: 79,592,435 (GRCm39) |
V64A |
probably damaging |
Het |
Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
Gatad2b |
T |
A |
3: 90,259,420 (GRCm39) |
S401R |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,291,622 (GRCm39) |
S722R |
probably damaging |
Het |
Gm10754 |
A |
T |
10: 97,518,132 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
A |
6: 64,322,782 (GRCm39) |
R594Q |
probably damaging |
Het |
Grm7 |
C |
A |
6: 110,623,098 (GRCm39) |
N90K |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,377,589 (GRCm39) |
V3452M |
possibly damaging |
Het |
Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
Klra3 |
A |
T |
6: 130,310,121 (GRCm39) |
V133D |
probably benign |
Het |
Lims2 |
A |
G |
18: 32,088,460 (GRCm39) |
E220G |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
Mbl1 |
T |
A |
14: 40,875,648 (GRCm39) |
I34K |
possibly damaging |
Het |
Mgam |
C |
T |
6: 40,733,384 (GRCm39) |
P839S |
probably damaging |
Het |
Mmp9 |
G |
T |
2: 164,794,387 (GRCm39) |
E460* |
probably null |
Het |
Mov10 |
T |
C |
3: 104,711,558 (GRCm39) |
H316R |
probably benign |
Het |
Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,774,633 (GRCm39) |
S2082P |
probably benign |
Het |
Myrfl |
G |
A |
10: 116,631,443 (GRCm39) |
T706I |
probably benign |
Het |
Nampt |
C |
A |
12: 32,888,421 (GRCm39) |
H191N |
possibly damaging |
Het |
Niban1 |
G |
A |
1: 151,572,002 (GRCm39) |
V316M |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,903,102 (GRCm39) |
E693G |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,894,491 (GRCm39) |
Y1191* |
probably null |
Het |
Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
Or1r1 |
A |
T |
11: 73,875,129 (GRCm39) |
Y102N |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,069 (GRCm39) |
Y259H |
probably damaging |
Het |
Osbpl10 |
A |
G |
9: 115,061,202 (GRCm39) |
N760S |
probably benign |
Het |
Otof |
A |
G |
5: 30,619,114 (GRCm39) |
V10A |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,364,853 (GRCm39) |
E664A |
probably damaging |
Het |
Pnp2 |
T |
C |
14: 51,201,161 (GRCm39) |
S178P |
probably damaging |
Het |
Pvr |
G |
A |
7: 19,650,927 (GRCm39) |
T199I |
probably damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rnaseh2b |
T |
C |
14: 62,598,794 (GRCm39) |
V173A |
probably benign |
Het |
Septin12 |
C |
T |
16: 4,810,070 (GRCm39) |
R155H |
probably damaging |
Het |
Slco6d1 |
G |
T |
1: 98,371,385 (GRCm39) |
R290L |
probably benign |
Het |
Snx32 |
A |
G |
19: 5,546,157 (GRCm39) |
V335A |
probably damaging |
Het |
Son |
T |
C |
16: 91,456,260 (GRCm39) |
V1669A |
possibly damaging |
Het |
Speer1f |
A |
T |
5: 11,469,052 (GRCm39) |
R68* |
probably null |
Het |
Tbata |
C |
T |
10: 61,015,063 (GRCm39) |
T116I |
probably benign |
Het |
Tdrd1 |
T |
A |
19: 56,831,021 (GRCm39) |
S279T |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,471,072 (GRCm39) |
Y515* |
probably null |
Het |
Tmem102 |
T |
G |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
Tmem169 |
A |
G |
1: 72,340,155 (GRCm39) |
N195S |
probably damaging |
Het |
Tmem201 |
A |
T |
4: 149,802,537 (GRCm39) |
S613T |
probably damaging |
Het |
Tnfaip6 |
A |
T |
2: 51,942,344 (GRCm39) |
I218F |
possibly damaging |
Het |
Tube1 |
C |
A |
10: 39,023,347 (GRCm39) |
H331Q |
probably benign |
Het |
Wwc1 |
G |
A |
11: 35,732,714 (GRCm39) |
T998I |
possibly damaging |
Het |
Xpc |
A |
T |
6: 91,475,104 (GRCm39) |
Y638* |
probably null |
Het |
Zdhhc4 |
A |
T |
5: 143,310,017 (GRCm39) |
Y80* |
probably null |
Het |
|
Other mutations in Aff4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00793:Aff4
|
APN |
11 |
53,302,817 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01348:Aff4
|
APN |
11 |
53,293,327 (GRCm39) |
missense |
probably benign |
|
IGL01446:Aff4
|
APN |
11 |
53,306,296 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02151:Aff4
|
APN |
11 |
53,290,633 (GRCm39) |
missense |
probably benign |
|
IGL02526:Aff4
|
APN |
11 |
53,297,509 (GRCm39) |
splice site |
probably benign |
|
IGL02567:Aff4
|
APN |
11 |
53,263,578 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02633:Aff4
|
APN |
11 |
53,300,198 (GRCm39) |
splice site |
probably benign |
|
IGL02707:Aff4
|
APN |
11 |
53,290,567 (GRCm39) |
missense |
probably benign |
|
R0090:Aff4
|
UTSW |
11 |
53,283,609 (GRCm39) |
missense |
probably benign |
0.01 |
R0128:Aff4
|
UTSW |
11 |
53,306,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R0243:Aff4
|
UTSW |
11 |
53,288,685 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0345:Aff4
|
UTSW |
11 |
53,263,708 (GRCm39) |
missense |
probably benign |
0.00 |
R0347:Aff4
|
UTSW |
11 |
53,290,915 (GRCm39) |
missense |
probably benign |
0.01 |
R0732:Aff4
|
UTSW |
11 |
53,266,423 (GRCm39) |
missense |
probably benign |
|
R0737:Aff4
|
UTSW |
11 |
53,301,780 (GRCm39) |
nonsense |
probably null |
|
R1464:Aff4
|
UTSW |
11 |
53,263,351 (GRCm39) |
missense |
probably damaging |
0.97 |
R1464:Aff4
|
UTSW |
11 |
53,263,351 (GRCm39) |
missense |
probably damaging |
0.97 |
R1500:Aff4
|
UTSW |
11 |
53,263,205 (GRCm39) |
missense |
probably benign |
0.00 |
R1693:Aff4
|
UTSW |
11 |
53,287,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R1743:Aff4
|
UTSW |
11 |
53,259,522 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1961:Aff4
|
UTSW |
11 |
53,263,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R2048:Aff4
|
UTSW |
11 |
53,289,212 (GRCm39) |
missense |
probably benign |
0.39 |
R2155:Aff4
|
UTSW |
11 |
53,290,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R2379:Aff4
|
UTSW |
11 |
53,299,305 (GRCm39) |
splice site |
probably benign |
|
R4156:Aff4
|
UTSW |
11 |
53,301,726 (GRCm39) |
intron |
probably benign |
|
R5001:Aff4
|
UTSW |
11 |
53,295,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R5281:Aff4
|
UTSW |
11 |
53,263,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R5477:Aff4
|
UTSW |
11 |
53,299,299 (GRCm39) |
critical splice donor site |
probably null |
|
R5677:Aff4
|
UTSW |
11 |
53,291,102 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5992:Aff4
|
UTSW |
11 |
53,263,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R6576:Aff4
|
UTSW |
11 |
53,291,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R6764:Aff4
|
UTSW |
11 |
53,290,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R6988:Aff4
|
UTSW |
11 |
53,289,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Aff4
|
UTSW |
11 |
53,299,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R7177:Aff4
|
UTSW |
11 |
53,297,466 (GRCm39) |
missense |
probably benign |
0.10 |
R7426:Aff4
|
UTSW |
11 |
53,263,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R7755:Aff4
|
UTSW |
11 |
53,289,206 (GRCm39) |
missense |
probably damaging |
0.97 |
R7848:Aff4
|
UTSW |
11 |
53,295,339 (GRCm39) |
missense |
probably benign |
0.05 |
R7968:Aff4
|
UTSW |
11 |
53,300,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R8159:Aff4
|
UTSW |
11 |
53,302,721 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8218:Aff4
|
UTSW |
11 |
53,289,084 (GRCm39) |
missense |
probably damaging |
0.98 |
R8241:Aff4
|
UTSW |
11 |
53,290,998 (GRCm39) |
missense |
probably benign |
0.00 |
R8284:Aff4
|
UTSW |
11 |
53,295,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R8373:Aff4
|
UTSW |
11 |
53,291,094 (GRCm39) |
nonsense |
probably null |
|
R8695:Aff4
|
UTSW |
11 |
53,259,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Aff4
|
UTSW |
11 |
53,290,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777-TAIL:Aff4
|
UTSW |
11 |
53,290,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8780:Aff4
|
UTSW |
11 |
53,271,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R8798:Aff4
|
UTSW |
11 |
53,291,335 (GRCm39) |
critical splice donor site |
probably benign |
|
R8838:Aff4
|
UTSW |
11 |
53,297,465 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8939:Aff4
|
UTSW |
11 |
53,263,231 (GRCm39) |
missense |
probably benign |
|
R9146:Aff4
|
UTSW |
11 |
53,298,963 (GRCm39) |
missense |
probably benign |
0.06 |
R9329:Aff4
|
UTSW |
11 |
53,288,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Aff4
|
UTSW |
11 |
53,263,306 (GRCm39) |
missense |
probably damaging |
0.98 |
R9471:Aff4
|
UTSW |
11 |
53,271,473 (GRCm39) |
missense |
probably benign |
0.13 |
R9779:Aff4
|
UTSW |
11 |
53,263,734 (GRCm39) |
nonsense |
probably null |
|
R9796:Aff4
|
UTSW |
11 |
53,302,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCGGATTCAGAGCATGCTTGG -3'
(R):5'- GAAACAGCCTGGGGTTTTCC -3'
Sequencing Primer
(F):5'- TTCAGAGCATGCTTGGAAACTACG -3'
(R):5'- TCCAGGGCTTGAGGATCGAG -3'
|
Posted On |
2014-10-01 |