Incidental Mutation 'R4730:Aff1'
| ID |
358749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aff1
|
| Ensembl Gene |
ENSMUSG00000029313 |
| Gene Name |
AF4/FMR2 family, member 1 |
| Synonyms |
Mllt2h, 9630032B01Rik, Af4, Rob |
| MMRRC Submission |
041990-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R4730 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
103840307-104003188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103990939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 963
(Q963R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031256]
[ENSMUST00000054979]
[ENSMUST00000153165]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031256
AA Change: Q971R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: Q971R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
16 |
1223 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054979
AA Change: Q963R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: Q963R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
8 |
1216 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153165
|
| SMART Domains |
Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
16 |
871 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0970 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (70/71) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in human childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. Knockout of the mouse gene by homologous recombination severely affects early events in lymphopoiesis, including precursor proliferation or recruitment, but is dispensable for terminal differentiation. In addition, an autosomal dominant missense mutation results in several phenotypes including ataxia and adult-onset Purkinje cell loss in the cerebellum, indicating a role in Purkinje cell maintenance and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,114,650 (GRCm39) |
E645K |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,487,590 (GRCm39) |
N964S |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,164,312 (GRCm39) |
L924R |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,547,618 (GRCm39) |
E398G |
possibly damaging |
Het |
| Engase |
A |
G |
11: 118,373,748 (GRCm39) |
N297D |
probably damaging |
Het |
| Esp4 |
A |
C |
17: 40,913,445 (GRCm39) |
Y104S |
unknown |
Het |
| Esp4 |
C |
A |
17: 40,913,446 (GRCm39) |
Y104* |
probably null |
Het |
| Fat1 |
A |
T |
8: 45,486,514 (GRCm39) |
N3356I |
probably damaging |
Het |
| Gm3867 |
T |
A |
9: 36,168,550 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
C |
T |
7: 38,101,918 (GRCm39) |
|
noncoding transcript |
Het |
| Grip2 |
T |
C |
6: 91,762,693 (GRCm39) |
*175W |
probably null |
Het |
| Gucy1b2 |
A |
G |
14: 62,645,208 (GRCm39) |
V617A |
probably damaging |
Het |
| Gzmc |
C |
T |
14: 56,469,089 (GRCm39) |
C210Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,374,703 (GRCm39) |
S20T |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,148 (GRCm39) |
L165* |
probably null |
Het |
| Ighv1-26 |
A |
G |
12: 114,752,409 (GRCm39) |
I6T |
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,974 (GRCm39) |
K350E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,493,416 (GRCm39) |
L198* |
probably null |
Het |
| Lrfn5 |
C |
T |
12: 61,887,505 (GRCm39) |
A431V |
probably benign |
Het |
| Lta |
C |
T |
17: 35,423,065 (GRCm39) |
R86Q |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,467,861 (GRCm39) |
I1058L |
probably damaging |
Het |
| Mtif2 |
T |
A |
11: 29,490,834 (GRCm39) |
S513T |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,570,032 (GRCm39) |
T364I |
possibly damaging |
Het |
| Nav1 |
C |
A |
1: 135,535,049 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,321,547 (GRCm39) |
V748A |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,738 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5g25 |
T |
C |
2: 85,478,336 (GRCm39) |
T110A |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,105 (GRCm39) |
I145V |
probably benign |
Het |
| Or5t17 |
C |
T |
2: 86,832,510 (GRCm39) |
R66W |
possibly damaging |
Het |
| Or6c33 |
G |
A |
10: 129,853,416 (GRCm39) |
R62Q |
probably damaging |
Het |
| Or9g19 |
G |
T |
2: 85,600,405 (GRCm39) |
E87* |
probably null |
Het |
| P4htm |
A |
G |
9: 108,456,971 (GRCm39) |
V412A |
possibly damaging |
Het |
| Phb2 |
T |
C |
6: 124,690,086 (GRCm39) |
S92P |
probably damaging |
Het |
| Phtf1 |
G |
T |
3: 103,894,751 (GRCm39) |
R147L |
probably damaging |
Het |
| Pigk |
C |
T |
3: 152,448,203 (GRCm39) |
Q189* |
probably null |
Het |
| Plxnc1 |
G |
A |
10: 94,703,330 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,713 (GRCm38) |
G252D |
probably damaging |
Het |
| Rnf4 |
G |
T |
5: 34,508,147 (GRCm39) |
V134F |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,877 (GRCm39) |
T182A |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,502 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,781,713 (GRCm39) |
F209L |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,024,171 (GRCm39) |
S567T |
possibly damaging |
Het |
| Slc4a2 |
C |
T |
5: 24,639,878 (GRCm39) |
R520W |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,194,751 (GRCm39) |
Q858R |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,956,852 (GRCm39) |
A640E |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,073 (GRCm39) |
Y44C |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,632,306 (GRCm39) |
E543G |
possibly damaging |
Het |
| Strn4 |
A |
G |
7: 16,562,719 (GRCm39) |
Q286R |
possibly damaging |
Het |
| Suz12 |
T |
C |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Syna |
T |
A |
5: 134,587,440 (GRCm39) |
E503V |
probably damaging |
Het |
| Syt14 |
C |
T |
1: 192,613,094 (GRCm39) |
D569N |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,030,457 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
G |
T |
5: 86,637,091 (GRCm39) |
S335* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,637,092 (GRCm39) |
S335T |
probably damaging |
Het |
| Trim66 |
A |
G |
7: 109,082,276 (GRCm39) |
S226P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,707,654 (GRCm39) |
T112A |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,092,791 (GRCm39) |
S149G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,756,582 (GRCm39) |
D108G |
probably null |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
|
| Other mutations in Aff1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Aff1
|
APN |
5 |
103,931,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02060:Aff1
|
APN |
5 |
103,931,715 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02081:Aff1
|
APN |
5 |
103,982,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02108:Aff1
|
APN |
5 |
103,958,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03056:Aff1
|
APN |
5 |
103,958,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03332:Aff1
|
APN |
5 |
103,988,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL03340:Aff1
|
APN |
5 |
103,931,670 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03382:Aff1
|
APN |
5 |
103,988,926 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4495001:Aff1
|
UTSW |
5 |
103,997,391 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0013:Aff1
|
UTSW |
5 |
103,976,350 (GRCm39) |
nonsense |
probably null |
|
|
R0219:Aff1
|
UTSW |
5 |
103,958,906 (GRCm39) |
splice site |
probably benign |
|
|
R0520:Aff1
|
UTSW |
5 |
103,995,617 (GRCm39) |
nonsense |
probably null |
|
|
R0607:Aff1
|
UTSW |
5 |
103,976,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Aff1
|
UTSW |
5 |
103,974,004 (GRCm39) |
splice site |
probably benign |
|
|
R1662:Aff1
|
UTSW |
5 |
103,988,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1730:Aff1
|
UTSW |
5 |
103,981,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Aff1
|
UTSW |
5 |
103,981,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Aff1
|
UTSW |
5 |
103,902,572 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R4007:Aff1
|
UTSW |
5 |
103,932,088 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4207:Aff1
|
UTSW |
5 |
103,966,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4702:Aff1
|
UTSW |
5 |
103,958,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Aff1
|
UTSW |
5 |
103,994,905 (GRCm39) |
nonsense |
probably null |
|
|
R5166:Aff1
|
UTSW |
5 |
103,902,523 (GRCm39) |
start gained |
probably benign |
|
|
R5294:Aff1
|
UTSW |
5 |
103,959,023 (GRCm39) |
intron |
probably benign |
|
|
R5435:Aff1
|
UTSW |
5 |
103,902,198 (GRCm39) |
unclassified |
probably benign |
|
|
R5436:Aff1
|
UTSW |
5 |
103,931,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6065:Aff1
|
UTSW |
5 |
103,990,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Aff1
|
UTSW |
5 |
103,990,163 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6298:Aff1
|
UTSW |
5 |
103,902,586 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7095:Aff1
|
UTSW |
5 |
103,990,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7261:Aff1
|
UTSW |
5 |
103,976,245 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7350:Aff1
|
UTSW |
5 |
103,994,958 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7423:Aff1
|
UTSW |
5 |
103,994,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Aff1
|
UTSW |
5 |
103,981,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7604:Aff1
|
UTSW |
5 |
103,995,675 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7607:Aff1
|
UTSW |
5 |
103,997,325 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8014:Aff1
|
UTSW |
5 |
103,981,735 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8219:Aff1
|
UTSW |
5 |
103,994,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Aff1
|
UTSW |
5 |
103,958,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8837:Aff1
|
UTSW |
5 |
103,982,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8957:Aff1
|
UTSW |
5 |
103,981,634 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9159:Aff1
|
UTSW |
5 |
103,990,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9377:Aff1
|
UTSW |
5 |
103,981,685 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9381:Aff1
|
UTSW |
5 |
103,981,733 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9705:Aff1
|
UTSW |
5 |
103,932,276 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9725:Aff1
|
UTSW |
5 |
103,994,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9764:Aff1
|
UTSW |
5 |
103,997,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Aff1
|
UTSW |
5 |
103,931,619 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCCTGGCTTTGGAAGG -3'
(R):5'- CCACTGTTTAATCAAGGGCATGG -3'
Sequencing Primer
(F):5'- AAGGCTGGCGCTGCTAG -3'
(R):5'- TGGGAACAGAGACTGACCATTGTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation