Incidental Mutation 'R6862:Aff3'
ID 535669
Institutional Source Beutler Lab
Gene Symbol Aff3
Ensembl Gene ENSMUSG00000037138
Gene Name AF4/FMR2 family, member 3
Synonyms LAF-4, 3222402O04Rik, Laf4
MMRRC Submission 045026-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6862 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 38216407-38704036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38445578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 307 (R307L)
Ref Sequence ENSEMBL: ENSMUSP00000092637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039827] [ENSMUST00000095027]
AlphaFold P51827
Predicted Effect possibly damaging
Transcript: ENSMUST00000039827
AA Change: R307L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: R307L

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: R307L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: R307L

DomainStartEndE-ValueType
Pfam:AF-4 20 172 1.7e-47 PFAM
Pfam:AF-4 161 1226 3.8e-268 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (57/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik C T 3: 137,891,949 (GRCm39) probably benign Het
Adgra2 T A 8: 27,603,465 (GRCm39) C417S probably damaging Het
Adgra2 C A 8: 27,603,464 (GRCm39) H416Q probably benign Het
Arhgap17 T C 7: 122,921,124 (GRCm39) D121G probably damaging Het
Ascc3 G T 10: 50,725,742 (GRCm39) R2155I probably null Het
Ccdc115 C T 1: 34,478,364 (GRCm39) S19N possibly damaging Het
Ccser2 T C 14: 36,662,038 (GRCm39) N382S probably benign Het
Cct6b A T 11: 82,610,785 (GRCm39) V500E probably damaging Het
Cenpo A T 12: 4,266,539 (GRCm39) Y190N probably damaging Het
Cfh T A 1: 140,030,100 (GRCm39) K924N probably damaging Het
Col4a1 A G 8: 11,252,926 (GRCm39) probably benign Het
Coro1b T C 19: 4,200,770 (GRCm39) V234A probably benign Het
Crot T C 5: 9,039,641 (GRCm39) K69E probably damaging Het
Cyp2d11 A T 15: 82,274,339 (GRCm39) H347Q probably benign Het
Efcab3 A T 11: 104,612,284 (GRCm39) K636* probably null Het
Fbn2 T A 18: 58,257,393 (GRCm39) I325F probably benign Het
Fbxw4 T A 19: 45,571,187 (GRCm39) R41S probably benign Het
Fn1 T A 1: 71,653,066 (GRCm39) I1308F probably benign Het
Frem1 C A 4: 82,930,251 (GRCm39) E232* probably null Het
Gabrg3 T C 7: 56,423,059 (GRCm39) Q213R possibly damaging Het
Garin3 G A 11: 46,298,418 (GRCm39) G574D possibly damaging Het
Gsdme A T 6: 50,204,378 (GRCm39) V193E probably damaging Het
Hadha C A 5: 30,352,977 (GRCm39) probably null Het
Hdgfl2 C A 17: 56,406,211 (GRCm39) A533E probably damaging Het
Hivep2 T C 10: 14,006,327 (GRCm39) F975S probably damaging Het
Htatip2 T A 7: 49,420,666 (GRCm39) S171T probably benign Het
Ift57 A T 16: 49,584,167 (GRCm39) I307F possibly damaging Het
Il22 A T 10: 118,041,715 (GRCm39) R110W probably benign Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Kif2b G A 11: 91,466,741 (GRCm39) T514M probably damaging Het
Kmt2c A C 5: 25,515,515 (GRCm39) I2776S probably damaging Het
Ly9 T C 1: 171,428,723 (GRCm39) D189G probably benign Het
Mal2 T C 15: 54,451,753 (GRCm39) V58A probably damaging Het
Mettl21e T A 1: 44,245,526 (GRCm39) N240I probably benign Het
Msantd5f1 A G 4: 73,605,621 (GRCm39) N344S probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nacc1 G A 8: 85,399,844 (GRCm39) R458C probably damaging Het
Ncapd3 T C 9: 26,942,105 (GRCm39) C14R probably damaging Het
Obscn G T 11: 58,886,279 (GRCm39) probably benign Het
Or13c3 A G 4: 52,855,695 (GRCm39) F273L probably benign Het
Or1j4 A T 2: 36,740,234 (GRCm39) M59L possibly damaging Het
Or8d23 T A 9: 38,841,772 (GRCm39) F102I possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Pde4dip C A 3: 97,674,340 (GRCm39) R192L possibly damaging Het
Pdlim4 C A 11: 53,946,674 (GRCm39) E204D probably damaging Het
Phf3 T C 1: 30,853,063 (GRCm39) Q1049R probably damaging Het
Prr14l A G 5: 32,985,103 (GRCm39) L1464P probably damaging Het
Psg25 C T 7: 18,255,323 (GRCm39) V398I probably benign Het
Ptprq T A 10: 107,522,086 (GRCm39) N622Y probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Tex36 A G 7: 133,189,002 (GRCm39) L190P probably benign Het
Tk1 A G 11: 117,707,320 (GRCm39) C156R probably damaging Het
Tmem144 T A 3: 79,739,406 (GRCm39) M126L probably benign Het
Tmem208 G A 8: 106,054,862 (GRCm39) probably null Het
Trappc13 T C 13: 104,286,660 (GRCm39) Q199R probably damaging Het
Trim30b T A 7: 104,012,960 (GRCm39) K156N probably damaging Het
Trps1 A G 15: 50,695,001 (GRCm39) probably null Het
Washc4 T A 10: 83,394,757 (GRCm39) F329Y possibly damaging Het
Zbed5 T G 5: 129,932,026 (GRCm39) D658E probably benign Het
Zfyve28 T G 5: 34,445,449 (GRCm39) K11N probably benign Het
Zp1 C T 19: 10,893,877 (GRCm39) V443I 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
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
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'- ATCTCAGTGTACCCCAAAGC -3'
(R):5'- CAATGAGAGCTGTCCATCAGG -3'

Sequencing Primer
(F):5'- AGTGTACCCCAAAGCACGGG -3'
(R):5'- AGCTGTCCATCAGGGGTAG -3'
Posted On 2018-10-18