Incidental Mutation 'R2165:AF067061'
ID 235454
Institutional Source Beutler Lab
Gene Symbol AF067061
Ensembl Gene ENSMUSG00000095071
Gene Name cDNA sequence AF067061
Synonyms clone L4 variable group of 2-cell-stage gene family, clone L8 variable group of 2-cell-stage gene family
MMRRC Submission 040168-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.626) question?
Stock # R2165 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 120263114-120264517 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120264097 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 99 (Q99L)
Ref Sequence ENSEMBL: ENSMUSP00000137949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179905] [ENSMUST00000181748]
AlphaFold O70616
Predicted Effect probably damaging
Transcript: ENSMUST00000179905
AA Change: Q99L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136309
Gene: ENSMUSG00000095071
AA Change: Q99L

DomainStartEndE-ValueType
Pfam:DUF1438 7 157 1.3e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000181748
AA Change: Q99L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137949
Gene: ENSMUSG00000095071
AA Change: Q99L

DomainStartEndE-ValueType
Pfam:DUF1438 7 157 4.3e-94 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,112,399 (GRCm38) T806A possibly damaging Het
Adgre1 T G 17: 57,419,338 (GRCm38) L403R probably damaging Het
Alox12 A T 11: 70,242,572 (GRCm38) probably null Het
Ankib1 A T 5: 3,713,210 (GRCm38) D506E possibly damaging Het
Ascc3 T G 10: 50,721,839 (GRCm38) Y1268D probably damaging Het
Bik A G 15: 83,541,423 (GRCm38) M42V probably benign Het
Bola1 A T 3: 96,197,201 (GRCm38) S26T probably benign Het
Bub1 T C 2: 127,801,281 (GRCm38) I1048V probably benign Het
Cad A G 5: 31,062,220 (GRCm38) N621S probably damaging Het
Camkv C A 9: 107,945,600 (GRCm38) N69K possibly damaging Het
Ccdc110 T C 8: 45,942,839 (GRCm38) M589T probably benign Het
Ccdc154 T A 17: 25,170,890 (GRCm38) V498E probably damaging Het
Ccr1l1 A G 9: 123,977,654 (GRCm38) L252P probably damaging Het
Cdh1 T C 8: 106,664,321 (GRCm38) C690R probably damaging Het
Cfap157 T G 2: 32,778,163 (GRCm38) probably null Het
Cux2 A G 5: 121,887,477 (GRCm38) S43P possibly damaging Het
Cyb5rl C T 4: 107,068,683 (GRCm38) P21S probably damaging Het
Cyp51 T G 5: 4,086,594 (GRCm38) Q400P probably damaging Het
Dnah7b T C 1: 46,097,992 (GRCm38) probably benign Het
Ephb4 A G 5: 137,354,426 (GRCm38) I90M probably benign Het
Fam13c A G 10: 70,542,693 (GRCm38) N269S probably damaging Het
Fam83c T A 2: 155,831,524 (GRCm38) Y248F possibly damaging Het
Fat2 A G 11: 55,303,716 (GRCm38) F1166L probably benign Het
Fem1a A G 17: 56,257,686 (GRCm38) N260D probably benign Het
Fnbp4 T A 2: 90,767,399 (GRCm38) probably null Het
Fut9 T A 4: 25,619,733 (GRCm38) *360Y probably null Het
Fut9 T A 4: 25,619,734 (GRCm38) *360L probably null Het
Gm11639 G A 11: 104,751,862 (GRCm38) V1104I possibly damaging Het
Gm3727 T A 14: 7,264,625 (GRCm38) Q10L probably damaging Het
Gpat2 G A 2: 127,428,291 (GRCm38) V75M probably damaging Het
Haspin A C 11: 73,136,630 (GRCm38) N544K probably damaging Het
Havcr1 A G 11: 46,778,552 (GRCm38) N286S probably benign Het
Lrp6 A C 6: 134,459,283 (GRCm38) C1307G probably damaging Het
Lrrc2 A C 9: 110,979,577 (GRCm38) H294P possibly damaging Het
Mon2 A C 10: 123,042,364 (GRCm38) probably null Het
Mrc2 G A 11: 105,348,431 (GRCm38) probably null Het
Mrgprb1 T C 7: 48,447,322 (GRCm38) I281V probably benign Het
Muc4 A G 16: 32,750,476 (GRCm38) E118G probably damaging Het
Nefh T C 11: 4,943,872 (GRCm38) D394G probably damaging Het
Neurl4 A G 11: 69,903,221 (GRCm38) T168A probably benign Het
Olfr347 T A 2: 36,734,701 (GRCm38) C127S probably damaging Het
Olfr642 T C 7: 104,049,638 (GRCm38) T239A probably benign Het
Olfr982 A G 9: 40,074,915 (GRCm38) N207D possibly damaging Het
Olfr987 A T 2: 85,331,102 (GRCm38) N265K probably benign Het
Oxsr1 A C 9: 119,294,432 (GRCm38) M92R probably damaging Het
Pde8a T C 7: 81,295,768 (GRCm38) probably null Het
Pex5l T A 3: 32,953,132 (GRCm38) probably null Het
Pik3r4 T A 9: 105,672,785 (GRCm38) M1025K probably benign Het
Plch1 C T 3: 63,698,482 (GRCm38) E1325K probably benign Het
Plin2 A T 4: 86,668,432 (GRCm38) V54E probably damaging Het
Pqlc3 G A 12: 16,989,839 (GRCm38) L192F probably damaging Het
Prss47 A T 13: 65,045,073 (GRCm38) I298N probably damaging Het
Prune2 A G 19: 17,120,182 (GRCm38) R1017G probably benign Het
Psg19 T A 7: 18,796,986 (GRCm38) Y81F possibly damaging Het
Ptch1 T G 13: 63,524,959 (GRCm38) E944A probably benign Het
Rrnad1 A T 3: 87,927,053 (GRCm38) probably null Het
Serpinb1a T C 13: 32,850,414 (GRCm38) probably benign Het
Sh3pxd2a A T 19: 47,278,355 (GRCm38) V265E probably damaging Het
Slc22a17 A T 14: 54,908,825 (GRCm38) Y337* probably null Het
Slc25a27 A G 17: 43,657,772 (GRCm38) V138A probably benign Het
Slc4a2 A G 5: 24,431,316 (GRCm38) Y220C probably damaging Het
Stab1 A T 14: 31,168,435 (GRCm38) S20T probably benign Het
Thsd1 G T 8: 22,238,522 (GRCm38) probably benign Het
Tmem204 G A 17: 25,080,592 (GRCm38) probably benign Het
Tom1l1 A G 11: 90,649,895 (GRCm38) probably benign Het
Toporsl T A 4: 52,612,072 (GRCm38) F655Y possibly damaging Het
Vmn2r98 A G 17: 19,081,291 (GRCm38) K852E unknown Het
Wdpcp T G 11: 21,691,884 (GRCm38) L174R probably damaging Het
Zbbx G A 3: 75,112,107 (GRCm38) P99S probably damaging Het
Zfhx4 C T 3: 5,403,358 (GRCm38) P2859S probably benign Het
Zfp600 A T 4: 146,196,918 (GRCm38) R719* probably null Het
Zfp697 C A 3: 98,428,014 (GRCm38) A365E unknown Het
Zfp957 A C 14: 79,213,613 (GRCm38) S249A probably benign Het
Other mutations in AF067061
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1435:AF067061 UTSW 13 120,263,988 (GRCm38) missense probably damaging 1.00
R1887:AF067061 UTSW 13 120,264,068 (GRCm38) missense probably damaging 1.00
R2517:AF067061 UTSW 13 120,263,939 (GRCm38) nonsense probably null
R3983:AF067061 UTSW 13 120,264,279 (GRCm38) missense possibly damaging 0.93
R4471:AF067061 UTSW 13 120,264,043 (GRCm38) missense probably benign
R4822:AF067061 UTSW 13 120,264,150 (GRCm38) missense probably damaging 0.99
R5775:AF067061 UTSW 13 120,263,939 (GRCm38) nonsense probably null
R6251:AF067061 UTSW 13 120,263,371 (GRCm38) intron probably benign
R8922:AF067061 UTSW 13 120,264,130 (GRCm38) missense probably benign 0.45
R9011:AF067061 UTSW 13 120,264,210 (GRCm38) missense probably damaging 0.98
R9659:AF067061 UTSW 13 120,264,218 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCAGAGTACAAGGTGTTCCAAGTC -3'
(R):5'- GCCAAAAGCCCTTTGAAGCC -3'

Sequencing Primer
(F):5'- GGTGTTCCAAGTCTGAGACAC -3'
(R):5'- TTTGAAGCCATGCCCAGCAG -3'
Posted On 2014-10-01