Incidental Mutation 'IGL02567:Aff4'
| ID |
298842 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aff4
|
| Ensembl Gene |
ENSMUSG00000049470 |
| Gene Name |
AF4/FMR2 family, member 4 |
| Synonyms |
Laf4l, Alf4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53241660-53312657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53263578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 199
(S199R)
|
| 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: S199R
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S199R
| 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 |
probably benign
Transcript: ENSMUST00000153821
|
| SMART Domains |
Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
2 |
122 |
4.1e-60 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
A |
G |
7: 144,165,362 (GRCm39) |
L621P |
probably damaging |
Het |
| Calcr |
C |
T |
6: 3,691,564 (GRCm39) |
V404M |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,339 (GRCm39) |
S635G |
possibly damaging |
Het |
| Ccl12 |
C |
A |
11: 81,993,447 (GRCm39) |
S28R |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,088,900 (GRCm39) |
N761D |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,208,357 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,014,819 (GRCm39) |
K862R |
possibly damaging |
Het |
| Cyp2c66 |
C |
T |
19: 39,175,084 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
T |
C |
5: 45,320,758 (GRCm39) |
|
noncoding transcript |
Het |
| Deup1 |
T |
C |
9: 15,486,579 (GRCm39) |
E367G |
probably damaging |
Het |
| Dpp8 |
T |
G |
9: 64,986,058 (GRCm39) |
Y849* |
probably null |
Het |
| Efhc1 |
T |
A |
1: 21,043,188 (GRCm39) |
V369E |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,436,479 (GRCm39) |
M101L |
possibly damaging |
Het |
| Epg5 |
A |
G |
18: 78,076,288 (GRCm39) |
Y2562C |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,059 (GRCm39) |
|
probably null |
Het |
| Frem1 |
A |
T |
4: 82,918,292 (GRCm39) |
M551K |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,567,281 (GRCm39) |
S889G |
probably benign |
Het |
| Golph3 |
C |
T |
15: 12,349,507 (GRCm39) |
R176* |
probably null |
Het |
| Got2 |
A |
T |
8: 96,598,829 (GRCm39) |
F191Y |
probably benign |
Het |
| Gtf2ird2 |
G |
T |
5: 134,241,890 (GRCm39) |
|
probably benign |
Het |
| H4c16 |
G |
A |
6: 136,781,272 (GRCm39) |
R36W |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,991,153 (GRCm39) |
T2218A |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,611 (GRCm39) |
G227D |
probably benign |
Het |
| Ifi202b |
C |
T |
1: 173,791,370 (GRCm39) |
S436N |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,969 (GRCm39) |
V2109D |
probably damaging |
Het |
| Opa1 |
C |
A |
16: 29,407,104 (GRCm39) |
D29E |
probably benign |
Het |
| Papln |
C |
T |
12: 83,825,611 (GRCm39) |
P631S |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,200,570 (GRCm39) |
M352K |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,173,112 (GRCm39) |
T129A |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,079,965 (GRCm39) |
H424Q |
probably damaging |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,473 (GRCm39) |
D642G |
probably damaging |
Het |
| Rnf111 |
T |
C |
9: 70,366,287 (GRCm39) |
T384A |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,633,555 (GRCm39) |
T393A |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,069 (GRCm39) |
K619M |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syt9 |
A |
G |
7: 107,035,868 (GRCm39) |
Y295C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,323 (GRCm39) |
Y306N |
probably damaging |
Het |
| Tmem107 |
T |
G |
11: 68,961,845 (GRCm39) |
L25V |
possibly damaging |
Het |
| Wdr24 |
T |
G |
17: 26,043,322 (GRCm39) |
I48S |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,374,848 (GRCm39) |
D231G |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,617,309 (GRCm39) |
K341E |
possibly damaging |
Het |
| Zfp142 |
T |
A |
1: 74,617,306 (GRCm39) |
S342C |
possibly damaging |
Het |
| Zfp142 |
T |
G |
1: 74,617,308 (GRCm39) |
K341T |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,989 (GRCm39) |
I989L |
probably benign |
Het |
| Zfyve9 |
A |
C |
4: 108,531,720 (GRCm39) |
V1095G |
probably damaging |
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 |
|
|
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 |
|
R2138:Aff4
|
UTSW |
11 |
53,263,339 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation