Incidental Mutation 'R4661:Aff3'
ID 352818
Institutional Source Beutler Lab
Gene Symbol Aff3
Ensembl Gene ENSMUSG00000037138
Gene Name AF4/FMR2 family, member 3
Synonyms LAF-4, 3222402O04Rik, Laf4
MMRRC Submission 041600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4661 (G1)
Quality Score 170
Status Not validated
Chromosome 1
Chromosomal Location 38216407-38704036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38666209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 5 (D5G)
Ref Sequence ENSEMBL: ENSMUSP00000092637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039827] [ENSMUST00000095027] [ENSMUST00000134963] [ENSMUST00000212668]
AlphaFold P51827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000027250
SMART Domains Protein: ENSMUSP00000027250
Gene: ENSMUSG00000037138

DomainStartEndE-ValueType
Pfam:AF-4 20 171 2.7e-48 PFAM
Pfam:AF-4 159 350 2.6e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000039827
AA Change: D5G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: D5G

DomainStartEndE-ValueType
Pfam:AF-4 20 170 4.9e-63 PFAM
Pfam:AF-4 160 1226 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000095027
AA Change: D5G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: D5G

DomainStartEndE-ValueType
Pfam:AF-4 20 172 1.7e-47 PFAM
Pfam:AF-4 161 1226 3.8e-268 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134963
Predicted Effect probably benign
Transcript: ENSMUST00000212668
AA Change: D5G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T C 9: 44,198,627 (GRCm39) N42D probably damaging Het
Adamdec1 G A 14: 68,807,562 (GRCm39) T366I probably damaging Het
Adamts7 C A 9: 90,075,383 (GRCm39) H1038Q probably benign Het
Amhr2 A T 15: 102,362,688 (GRCm39) D485V probably damaging Het
Arhgap35 A T 7: 16,298,663 (GRCm39) F134Y probably damaging Het
Asxl3 A G 18: 22,649,534 (GRCm39) T508A probably benign Het
Atp10a TGGCGGCGGC TGGCGGC 7: 58,308,248 (GRCm39) probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Atp9a A G 2: 168,479,592 (GRCm39) F928L possibly damaging Het
BC034090 A T 1: 155,108,221 (GRCm39) D13E probably damaging Het
Bco1 A G 8: 117,855,980 (GRCm39) E425G probably benign Het
Brsk1 T C 7: 4,710,298 (GRCm39) S436P possibly damaging Het
C1s1 T C 6: 124,513,449 (GRCm39) I193V probably benign Het
Calb2 A G 8: 110,894,709 (GRCm39) F21L probably benign Het
Catsperz T G 19: 6,902,171 (GRCm39) T108P probably benign Het
Cep57l1 T A 10: 41,595,767 (GRCm39) D329V possibly damaging Het
Cfdp1 A G 8: 112,557,577 (GRCm39) F188S probably benign Het
Chrna2 G A 14: 66,386,292 (GRCm39) G146D probably damaging Het
Col6a1 A C 10: 76,550,506 (GRCm39) F520V unknown Het
Cyb5d2 C A 11: 72,669,771 (GRCm39) V43L probably damaging Het
Cyp2c40 T C 19: 39,775,290 (GRCm39) T321A probably benign Het
Dnajc16 A C 4: 141,490,859 (GRCm39) Y764D probably damaging Het
Dsg1a G A 18: 20,473,590 (GRCm39) V888M probably damaging Het
F5 A C 1: 164,012,489 (GRCm39) T468P probably damaging Het
Faap24 A G 7: 35,094,509 (GRCm39) M97T probably benign Het
Fam227b A T 2: 125,849,230 (GRCm39) I334N probably damaging Het
Frem2 G T 3: 53,562,864 (GRCm39) P548T probably damaging Het
Gfm1 A G 3: 67,340,731 (GRCm39) E94G probably damaging Het
Gm17606 A T 14: 54,885,696 (GRCm39) probably benign Het
Gnb2 A T 5: 137,528,515 (GRCm39) M1K probably null Het
Gys1 G A 7: 45,104,258 (GRCm39) A544T probably damaging Het
Hdac5 T C 11: 102,096,675 (GRCm39) Y230C probably damaging Het
Hunk A T 16: 90,244,196 (GRCm39) probably null Het
Ifnl2 A G 7: 28,209,635 (GRCm39) F51L probably damaging Het
Itpr1 T C 6: 108,387,892 (GRCm39) probably null Het
Kcnj1 A G 9: 32,307,918 (GRCm39) Y114C probably benign Het
Kdm4b T A 17: 56,706,459 (GRCm39) S322T probably damaging Het
Kif27 T C 13: 58,471,730 (GRCm39) E786G probably damaging Het
Kif6 T C 17: 50,060,909 (GRCm39) V414A probably benign Het
L1td1 A G 4: 98,621,861 (GRCm39) K141R possibly damaging Het
Loxhd1 A G 18: 77,490,581 (GRCm39) I1394V possibly damaging Het
Lrfn5 A T 12: 61,886,433 (GRCm39) M74L probably damaging Het
Lrp6 C T 6: 134,488,230 (GRCm39) D289N probably benign Het
Mroh7 A G 4: 106,548,710 (GRCm39) probably null Het
Muc4 A C 16: 32,589,651 (GRCm39) E2885A possibly damaging Het
Myo18b G T 5: 113,023,041 (GRCm39) probably benign Het
Ncln G A 10: 81,328,902 (GRCm39) A172V probably damaging Het
Nek9 G A 12: 85,367,666 (GRCm39) T335M possibly damaging Het
Notch2 A G 3: 98,042,829 (GRCm39) Y1398C probably damaging Het
Or10g6 A T 9: 39,933,823 (GRCm39) I45F probably damaging Het
Or2d4 T A 7: 106,544,074 (GRCm39) I45F probably damaging Het
Or5p52 A T 7: 107,502,188 (GRCm39) H88L probably benign Het
Pax2 G A 19: 44,749,376 (GRCm39) V40M probably damaging Het
Pde6c A G 19: 38,157,887 (GRCm39) Y637C probably damaging Het
Plppr5 A G 3: 117,414,618 (GRCm39) I80V probably damaging Het
Pold1 G T 7: 44,182,233 (GRCm39) P1100T probably damaging Het
Prune2 T C 19: 16,977,387 (GRCm39) Y41H probably damaging Het
Rgl2 C T 17: 34,152,200 (GRCm39) A329V possibly damaging Het
Rilp T A 11: 75,402,250 (GRCm39) Y250N probably damaging Het
Rilpl1 A G 5: 124,652,751 (GRCm39) V19A probably benign Het
Rtp3 T C 9: 110,815,519 (GRCm39) probably null Het
Rufy4 A G 1: 74,172,266 (GRCm39) K246E probably damaging Het
Saraf C A 8: 34,635,616 (GRCm39) A306E probably damaging Het
Slc26a8 A T 17: 28,857,658 (GRCm39) N828K probably benign Het
Src C T 2: 157,311,852 (GRCm39) P527S probably damaging Het
Susd3 C T 13: 49,384,778 (GRCm39) probably null Het
Syngap1 T C 17: 27,185,880 (GRCm39) L1270P probably damaging Het
Taf1c G A 8: 120,325,589 (GRCm39) P758S probably damaging Het
Tenm2 A T 11: 35,915,275 (GRCm39) N2087K probably damaging Het
Tfrc A T 16: 32,448,969 (GRCm39) I703F probably damaging Het
Thap1 C G 8: 26,650,874 (GRCm39) T48S probably benign Het
Tspear T C 10: 77,702,163 (GRCm39) F199L probably benign Het
Usp17lc A T 7: 103,067,797 (GRCm39) H364L probably benign Het
Usp9x A G X: 12,989,747 (GRCm39) R776G possibly damaging Homo
Vmn1r1 T C 1: 181,984,789 (GRCm39) E292G possibly damaging Het
Vmn1r125 T G 7: 21,006,552 (GRCm39) V150G probably damaging Het
Vmn1r167 A T 7: 23,204,117 (GRCm39) L300I probably damaging Het
Vmn2r106 A C 17: 20,487,885 (GRCm39) I838S probably benign Het
Wdr64 A T 1: 175,554,060 (GRCm39) S197C probably damaging Het
Zfp248 A T 6: 118,410,268 (GRCm39) V47E possibly damaging 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
R1156:Aff3 UTSW 1 38,243,991 (GRCm39) missense probably benign
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
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 PCR Primer
(F):5'- TGAGCTAGCGCAGGCAAG -3'
(R):5'- CTCTCGGCGAGTGTGGCT -3'

Sequencing Primer
(F):5'- ACCGACGAATTCACGGGG -3'
(R):5'- TGCCGGGCACTGAGAGC -3'
Posted On 2015-10-08