Incidental Mutation 'R1156:Aff3'
ID 101704
Institutional Source Beutler Lab
Gene Symbol Aff3
Ensembl Gene ENSMUSG00000037138
Gene Name AF4/FMR2 family, member 3
Synonyms LAF-4, 3222402O04Rik, Laf4
MMRRC Submission 039229-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1156 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 38216407-38704036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38243991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 927 (T927A)
Ref Sequence ENSEMBL: ENSMUSP00000092637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039827] [ENSMUST00000095027]
AlphaFold P51827
Predicted Effect probably benign
Transcript: ENSMUST00000039827
AA Change: T926A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: T926A

DomainStartEndE-ValueType
Pfam:AF-4 20 170 4.9e-63 PFAM
Pfam:AF-4 160 1226 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095027
AA Change: T927A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: T927A

DomainStartEndE-ValueType
Pfam:AF-4 20 172 1.7e-47 PFAM
Pfam:AF-4 161 1226 3.8e-268 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.2%
  • 10x: 94.8%
  • 20x: 86.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13b G T 11: 77,363,687 (GRCm39) H425Q probably damaging Het
Ano7 C A 1: 93,329,574 (GRCm39) probably null Het
Cachd1 T C 4: 100,845,816 (GRCm39) L1000P probably damaging Het
Dennd4c A G 4: 86,725,703 (GRCm39) D719G probably damaging Het
Ehbp1l1 G T 19: 5,758,364 (GRCm39) probably benign Het
Eml3 A G 19: 8,911,494 (GRCm39) T326A probably damaging Het
Exoc6 T A 19: 37,671,345 (GRCm39) N778K probably benign Het
Fat1 G A 8: 45,492,927 (GRCm39) R3883H possibly damaging Het
Kcnt2 T A 1: 140,356,593 (GRCm39) V344D probably damaging Het
Khdrbs2 C A 1: 32,506,956 (GRCm39) T200K probably benign Het
Mtap A T 4: 89,089,459 (GRCm39) T148S probably benign Het
Nos3 T C 5: 24,582,617 (GRCm39) V615A probably benign Het
Nudt9 G A 5: 104,198,596 (GRCm39) W37* probably null Het
Obp2a A G 2: 25,591,604 (GRCm39) K108R possibly damaging Het
Or14j3 T A 17: 37,900,408 (GRCm39) T279S possibly damaging Het
Sec23a A T 12: 59,048,622 (GRCm39) S167T probably benign Het
Strn A G 17: 78,964,360 (GRCm39) I535T probably damaging Het
Ttn G A 2: 76,804,747 (GRCm39) T206M probably damaging Het
Vwf T C 6: 125,614,451 (GRCm39) C1111R probably damaging Het
Zfp831 C A 2: 174,488,710 (GRCm39) H1128Q possibly damaging Het
Zup1 T C 10: 33,825,222 (GRCm39) T87A probably benign Het
Other mutations in Aff3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Aff3 APN 1 38,574,762 (GRCm39) missense probably damaging 1.00
IGL02263:Aff3 APN 1 38,574,680 (GRCm39) missense probably damaging 1.00
IGL02962:Aff3 APN 1 38,574,737 (GRCm39) missense probably damaging 1.00
IGL03003:Aff3 APN 1 38,248,651 (GRCm39) missense probably damaging 1.00
IGL03180:Aff3 APN 1 38,574,743 (GRCm39) missense probably damaging 1.00
IGL03389:Aff3 APN 1 38,249,430 (GRCm39) missense possibly damaging 0.62
PIT4377001:Aff3 UTSW 1 38,578,044 (GRCm39) missense probably damaging 0.99
PIT4544001:Aff3 UTSW 1 38,249,443 (GRCm39) missense probably benign 0.01
R0004:Aff3 UTSW 1 38,308,807 (GRCm39) missense possibly damaging 0.46
R0004:Aff3 UTSW 1 38,308,807 (GRCm39) missense possibly damaging 0.46
R0026:Aff3 UTSW 1 38,242,974 (GRCm39) missense probably benign 0.00
R0279:Aff3 UTSW 1 38,574,650 (GRCm39) missense probably damaging 1.00
R0344:Aff3 UTSW 1 38,243,013 (GRCm39) missense probably benign
R0375:Aff3 UTSW 1 38,244,021 (GRCm39) missense possibly damaging 0.46
R0605:Aff3 UTSW 1 38,249,068 (GRCm39) missense probably damaging 1.00
R0613:Aff3 UTSW 1 38,249,004 (GRCm39) missense probably benign 0.09
R0742:Aff3 UTSW 1 38,666,189 (GRCm39) missense probably damaging 0.99
R1255:Aff3 UTSW 1 38,243,965 (GRCm39) splice site probably null
R1448:Aff3 UTSW 1 38,230,364 (GRCm39) missense probably damaging 1.00
R1760:Aff3 UTSW 1 38,368,945 (GRCm39) splice site probably benign
R1780:Aff3 UTSW 1 38,574,783 (GRCm39) missense probably damaging 1.00
R1855:Aff3 UTSW 1 38,249,385 (GRCm39) missense probably benign 0.23
R2011:Aff3 UTSW 1 38,246,996 (GRCm39) missense probably benign 0.01
R2331:Aff3 UTSW 1 38,243,971 (GRCm39) splice site probably null
R2965:Aff3 UTSW 1 38,248,791 (GRCm39) missense probably damaging 1.00
R2970:Aff3 UTSW 1 38,574,103 (GRCm39) missense probably damaging 0.97
R3015:Aff3 UTSW 1 38,249,649 (GRCm39) missense probably benign 0.00
R3763:Aff3 UTSW 1 38,291,770 (GRCm39) splice site probably benign
R4174:Aff3 UTSW 1 38,247,008 (GRCm39) missense probably damaging 0.96
R4436:Aff3 UTSW 1 38,248,768 (GRCm39) missense possibly damaging 0.75
R4661:Aff3 UTSW 1 38,666,209 (GRCm39) missense possibly damaging 0.94
R5069:Aff3 UTSW 1 38,220,694 (GRCm39) critical splice donor site probably null
R5566:Aff3 UTSW 1 38,220,505 (GRCm39) missense probably damaging 1.00
R6023:Aff3 UTSW 1 38,257,451 (GRCm39) missense probably damaging 1.00
R6209:Aff3 UTSW 1 38,232,670 (GRCm39) missense probably benign 0.28
R6467:Aff3 UTSW 1 38,247,098 (GRCm39) missense probably benign 0.25
R6748:Aff3 UTSW 1 38,574,327 (GRCm39) missense probably damaging 1.00
R6862:Aff3 UTSW 1 38,445,578 (GRCm39) missense possibly damaging 0.87
R6880:Aff3 UTSW 1 38,666,209 (GRCm39) missense possibly damaging 0.94
R6880:Aff3 UTSW 1 38,574,243 (GRCm39) missense probably damaging 0.99
R7187:Aff3 UTSW 1 38,257,478 (GRCm39) missense probably damaging 0.98
R8322:Aff3 UTSW 1 38,220,742 (GRCm39) missense possibly damaging 0.65
R8329:Aff3 UTSW 1 38,244,135 (GRCm39) missense probably benign 0.13
R8737:Aff3 UTSW 1 38,308,810 (GRCm39) missense probably damaging 1.00
R9093:Aff3 UTSW 1 38,291,738 (GRCm39) missense possibly damaging 0.81
R9146:Aff3 UTSW 1 38,359,200 (GRCm39) missense probably benign 0.27
R9149:Aff3 UTSW 1 38,220,397 (GRCm39) missense probably damaging 1.00
R9157:Aff3 UTSW 1 38,249,559 (GRCm39) missense probably benign 0.45
R9446:Aff3 UTSW 1 38,574,337 (GRCm39) missense probably benign 0.30
R9581:Aff3 UTSW 1 38,249,266 (GRCm39) missense probably benign
R9645:Aff3 UTSW 1 38,249,121 (GRCm39) missense probably damaging 1.00
R9674:Aff3 UTSW 1 38,248,864 (GRCm39) missense probably damaging 1.00
Z1176:Aff3 UTSW 1 38,368,953 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2014-01-15