Incidental Mutation 'R0279:Aff3'
ID 24507
Institutional Source Beutler Lab
Gene Symbol Aff3
Ensembl Gene ENSMUSG00000037138
Gene Name AF4/FMR2 family, member 3
Synonyms LAF-4, 3222402O04Rik, Laf4
MMRRC Submission 038501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0279 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 38216407-38704036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38574650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 110 (E110G)
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 probably damaging
Transcript: ENSMUST00000039827
AA Change: E110G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: E110G

DomainStartEndE-ValueType
Pfam:AF-4 20 170 4.9e-63 PFAM
Pfam:AF-4 160 1226 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095027
AA Change: E110G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: E110G

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
Meta Mutation Damage Score 0.1072 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.6%
Validation Efficiency 99% (82/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610528J11Rik A T 4: 118,386,490 (GRCm39) M1L probably benign Het
5730596B20Rik T A 6: 52,156,182 (GRCm39) probably benign Het
Acrbp T C 6: 125,030,917 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acss3 A G 10: 106,920,732 (GRCm39) I126T possibly damaging Het
Aldh1a3 T C 7: 66,059,000 (GRCm39) I113V probably benign Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Atp2b4 A G 1: 133,657,440 (GRCm39) probably benign Het
Atp8a1 C T 5: 67,970,435 (GRCm39) probably null Het
Bhmt A G 13: 93,761,972 (GRCm39) C104R probably damaging Het
Cct5 T G 15: 31,591,177 (GRCm39) E508A probably damaging Het
Celsr1 T A 15: 85,787,065 (GRCm39) E2761D probably benign Het
Clstn1 T C 4: 149,728,131 (GRCm39) S600P probably damaging Het
Cnppd1 A G 1: 75,113,573 (GRCm39) S232P probably damaging Het
Crybb3 T C 5: 113,227,619 (GRCm39) probably null Het
Csmd1 A G 8: 16,273,249 (GRCm39) I861T probably damaging Het
Cyp2d10 A C 15: 82,289,540 (GRCm39) S191A possibly damaging Het
Ddx10 T C 9: 53,146,604 (GRCm39) D206G probably damaging Het
Dnah1 G T 14: 31,024,332 (GRCm39) H916N possibly damaging Het
Dnah9 A G 11: 65,802,615 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Etnppl A G 3: 130,423,062 (GRCm39) R248G probably damaging Het
Eya3 T C 4: 132,446,558 (GRCm39) F369L probably damaging Het
Fam170b T C 14: 32,556,025 (GRCm39) probably benign Het
Fli1 A T 9: 32,372,723 (GRCm39) V105D probably damaging Het
Fmo1 T C 1: 162,657,841 (GRCm39) I433M possibly damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Foxe3 T C 4: 114,782,765 (GRCm39) D149G probably damaging Het
Gk5 T C 9: 96,056,857 (GRCm39) probably benign Het
Gm14226 A G 2: 154,867,372 (GRCm39) D443G possibly damaging Het
Gm9796 C T 11: 95,588,821 (GRCm39) noncoding transcript Het
Golga4 A T 9: 118,398,061 (GRCm39) R52S probably benign Het
Hey2 C A 10: 30,710,006 (GRCm39) C249F probably damaging Het
Ipo9 A T 1: 135,348,101 (GRCm39) probably benign Het
Ireb2 C A 9: 54,793,877 (GRCm39) T269K probably benign Het
Kansl3 A G 1: 36,391,050 (GRCm39) V274A probably damaging Het
Kcnk2 C T 1: 188,942,169 (GRCm39) A352T possibly damaging Het
Lamc2 T C 1: 153,006,442 (GRCm39) E903G probably benign Het
Lepr A G 4: 101,607,541 (GRCm39) K253R probably benign Het
Lmntd2 T C 7: 140,793,536 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,371,952 (GRCm39) T240S probably benign Het
Lrrc43 A G 5: 123,635,085 (GRCm39) probably null Het
Maf T C 8: 116,432,495 (GRCm39) M370V possibly damaging Het
Mib2 G A 4: 155,745,673 (GRCm39) S46L possibly damaging Het
Mms22l C T 4: 24,497,867 (GRCm39) T63I probably damaging Het
Morc2a T A 11: 3,633,989 (GRCm39) S700R probably benign Het
Mpz A G 1: 170,987,498 (GRCm39) probably benign Het
Ncam2 T C 16: 81,420,225 (GRCm39) probably benign Het
Niban1 T C 1: 151,584,957 (GRCm39) probably null Het
Nudt14 C T 12: 112,902,037 (GRCm39) A123T probably damaging Het
Odad3 A G 9: 21,901,543 (GRCm39) probably benign Het
Or10h1 C T 17: 33,418,298 (GRCm39) T92I probably benign Het
Or2a7 G A 6: 43,151,692 (GRCm39) M257I probably benign Het
Or9g20 A T 2: 85,629,879 (GRCm39) I245N possibly damaging Het
Otoa T C 7: 120,710,302 (GRCm39) probably benign Het
Pik3cg G A 12: 32,254,790 (GRCm39) T399I probably damaging Het
Pkn3 C T 2: 29,973,309 (GRCm39) A377V probably benign Het
Ppan A G 9: 20,802,825 (GRCm39) N327S probably benign Het
Prkca T C 11: 107,944,937 (GRCm39) probably benign Het
Prrc2c A T 1: 162,543,033 (GRCm39) V320E probably damaging Het
Ptprq A G 10: 107,444,278 (GRCm39) V1442A probably damaging Het
Rapgef1 C T 2: 29,616,239 (GRCm39) R834C probably damaging Het
Rbms1 G T 2: 60,672,754 (GRCm39) N44K probably damaging Het
Rfwd3 A C 8: 112,009,365 (GRCm39) F404V probably benign Het
Rimbp3 G T 16: 17,027,317 (GRCm39) R247L probably benign Het
Serpinb1b T C 13: 33,277,696 (GRCm39) S310P possibly damaging Het
Smtn C A 11: 3,480,235 (GRCm39) V329L probably damaging Het
Snapc2 T C 8: 4,304,979 (GRCm39) probably benign Het
Spam1 A T 6: 24,800,418 (GRCm39) M386L probably benign Het
Syne2 A G 12: 76,142,387 (GRCm39) E6208G probably damaging Het
Teddm1a T C 1: 153,768,369 (GRCm39) Y278H probably damaging Het
Tnfaip6 A T 2: 51,945,928 (GRCm39) N258I possibly damaging Het
Trpm4 C T 7: 44,971,472 (GRCm39) R188Q probably damaging Het
Ttbk2 A T 2: 120,579,441 (GRCm39) H491Q probably benign Het
Urgcp C T 11: 5,666,989 (GRCm39) E450K probably benign Het
Vmn1r228 T C 17: 20,996,637 (GRCm39) N294D probably benign Het
Wdfy3 A T 5: 102,015,958 (GRCm39) C2606S probably damaging Het
Wdr33 T A 18: 32,021,377 (GRCm39) H642Q unknown Het
Zbtb46 A G 2: 181,053,567 (GRCm39) S382P possibly damaging Het
Zfp217 A G 2: 169,961,700 (GRCm39) I209T probably benign Het
Zranb3 T A 1: 127,891,510 (GRCm39) N822I 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
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
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'- AAGCCCCGTCTCCATATTGCAC -3'
(R):5'- TGTCTTTGTTACCTGACAGGCACC -3'

Sequencing Primer
(F):5'- TGAGGATGAGGTTCTCCACAC -3'
(R):5'- AGGCACCTGTCCACTGTTG -3'
Posted On 2013-04-16