Incidental Mutation 'R5372:Fam167b'
ID 428774
Institutional Source Beutler Lab
Gene Symbol Fam167b
Ensembl Gene ENSMUSG00000050493
Gene Name family with sequence similarity 167, member B
Synonyms
MMRRC Submission 042948-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R5372 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129470608-129472342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129472092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 26 (L26Q)
Ref Sequence ENSEMBL: ENSMUSP00000050531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052835] [ENSMUST00000102596]
AlphaFold P17257
Predicted Effect possibly damaging
Transcript: ENSMUST00000052835
AA Change: L26Q

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050531
Gene: ENSMUSG00000050493
AA Change: L26Q

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:DUF3259 89 162 1.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102596
SMART Domains Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409

DomainStartEndE-ValueType
SH3 64 120 3.53e-17 SMART
SH2 125 215 2.07e-34 SMART
TyrKc 245 494 2.66e-133 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142699
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (89/93)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,848,988 (GRCm39) D108E probably damaging Het
Abhd12b A G 12: 70,227,800 (GRCm39) D194G probably damaging Het
Adck5 A G 15: 76,478,707 (GRCm39) probably benign Het
Adgrb3 C T 1: 25,167,940 (GRCm39) V792I probably benign Het
Anxa8 G A 14: 33,815,868 (GRCm39) V174M probably damaging Het
Apol9b A T 15: 77,619,920 (GRCm39) R239W probably benign Het
Arhgap26 A G 18: 38,775,509 (GRCm39) noncoding transcript Het
Atrnl1 A G 19: 57,743,968 (GRCm39) Y1190C probably benign Het
Brinp3 T G 1: 146,707,464 (GRCm39) L376R probably damaging Het
Btbd2 A T 10: 80,484,475 (GRCm39) M132K probably damaging Het
C130073F10Rik A T 4: 101,747,684 (GRCm39) I115K probably damaging Het
C1ra T A 6: 124,498,584 (GRCm39) Y426N probably damaging Het
Cacna1b A T 2: 24,623,971 (GRCm39) V203E probably damaging Het
Catsperg1 T A 7: 28,910,137 (GRCm39) D68V probably benign Het
Ccdc158 A C 5: 92,780,419 (GRCm39) S885A possibly damaging Het
Cdc42bpa T C 1: 179,892,544 (GRCm39) V236A probably damaging Het
Cdca7 A T 2: 72,312,793 (GRCm39) E176D probably damaging Het
Cdk17 A G 10: 93,061,901 (GRCm39) D211G probably benign Het
Clca3a2 A C 3: 144,503,286 (GRCm39) M888R probably benign Het
Clcn7 T A 17: 25,376,153 (GRCm39) M568K possibly damaging Het
Clip1 G T 5: 123,768,303 (GRCm39) N811K probably benign Het
Col12a1 T A 9: 79,585,648 (GRCm39) Y1243F probably damaging Het
Dctn1 T A 6: 83,167,192 (GRCm39) D315E probably damaging Het
Dgcr2 T C 16: 17,690,508 (GRCm39) T41A probably benign Het
Dync2h1 G A 9: 7,176,962 (GRCm39) probably benign Het
Ep300 A G 15: 81,521,031 (GRCm39) I1264V unknown Het
Fam178b T A 1: 36,603,929 (GRCm39) I457F possibly damaging Het
Fgd4 A T 16: 16,302,155 (GRCm39) N133K probably benign Het
Fndc1 C G 17: 7,984,042 (GRCm39) V1295L unknown Het
Gad2 A T 2: 22,580,255 (GRCm39) D552V possibly damaging Het
Hars2 T C 18: 36,923,534 (GRCm39) Y361H possibly damaging Het
Heca T A 10: 17,790,887 (GRCm39) S390C probably damaging Het
Hephl1 G T 9: 15,009,195 (GRCm39) Y132* probably null Het
Hormad1 T A 3: 95,483,735 (GRCm39) D182E probably damaging Het
Ifna15 G A 4: 88,476,338 (GRCm39) P49S probably damaging Het
Khsrp T C 17: 57,331,292 (GRCm39) T429A possibly damaging Het
Magi2 A G 5: 20,907,108 (GRCm39) Q1094R possibly damaging Het
Map3k11 T A 19: 5,740,990 (GRCm39) I239K probably damaging Het
Mtus2 A G 5: 148,250,222 (GRCm39) T1319A probably damaging Het
Nup54 A G 5: 92,565,716 (GRCm39) I406T probably damaging Het
Nxpe2 T C 9: 48,250,819 (GRCm39) T43A possibly damaging Het
Nynrin A G 14: 56,105,948 (GRCm39) E889G probably benign Het
Opa1 A C 16: 29,404,937 (GRCm39) H45P probably benign Het
Or14c44 T A 7: 86,062,176 (GRCm39) I202N possibly damaging Het
Or4f60 A G 2: 111,902,454 (GRCm39) I158T probably benign Het
Or56b2j A G 7: 104,353,002 (GRCm39) D76G probably benign Het
Or8a1b T C 9: 37,623,234 (GRCm39) M114V possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Papola A G 12: 105,793,309 (GRCm39) K543R probably benign Het
Plcxd3 G A 15: 4,604,270 (GRCm39) V293I probably benign Het
Polr2g T C 19: 8,774,667 (GRCm39) Y72C probably damaging Het
Ppp1r21 A G 17: 88,858,103 (GRCm39) K205E probably benign Het
Ptpre A G 7: 135,255,669 (GRCm39) K53E possibly damaging Het
Rasal3 T C 17: 32,610,318 (GRCm39) K990E probably benign Het
Rgs3 A T 4: 62,570,934 (GRCm39) probably benign Het
Rhd A G 4: 134,611,943 (GRCm39) T254A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scube3 G T 17: 28,371,456 (GRCm39) C57F probably damaging Het
Sh2d5 A G 4: 137,982,010 (GRCm39) D57G possibly damaging Het
Slc12a6 T A 2: 112,177,705 (GRCm39) L608* probably null Het
Slk A T 19: 47,613,832 (GRCm39) N896I probably damaging Het
Smc6 A G 12: 11,332,431 (GRCm39) D211G probably damaging Het
Sox6 A T 7: 115,149,386 (GRCm39) Y371* probably null Het
Srcap G A 7: 127,156,785 (GRCm39) probably null Het
Stard5 T A 7: 83,282,428 (GRCm39) D80E probably damaging Het
Supv3l1 C T 10: 62,268,136 (GRCm39) V570M probably damaging Het
Syt7 G T 19: 10,403,985 (GRCm39) V180L probably damaging Het
Tacc2 T A 7: 130,224,990 (GRCm39) H558Q probably benign Het
Tas2r120 T A 6: 132,634,446 (GRCm39) M176K possibly damaging Het
Tmem135 A T 7: 88,814,382 (GRCm39) probably null Het
Trim35 T C 14: 66,534,715 (GRCm39) V66A possibly damaging Het
Tspan12 A G 6: 21,772,698 (GRCm39) S284P probably benign Het
Ttll3 A T 6: 113,378,382 (GRCm39) K257* probably null Het
Uggt1 C A 1: 36,283,141 (GRCm39) probably benign Het
Vmn2r7 T A 3: 64,623,745 (GRCm39) I283F probably damaging Het
Wdfy2 T G 14: 63,192,334 (GRCm39) H363Q probably damaging Het
Wdr4 T A 17: 31,729,554 (GRCm39) K95N probably damaging Het
Zfp141 T C 7: 42,126,620 (GRCm39) N91S possibly damaging Het
Zfp383 C T 7: 29,614,695 (GRCm39) R317* probably null Het
Other mutations in Fam167b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Fam167b APN 4 129,470,892 (GRCm39) missense probably damaging 0.99
IGL02410:Fam167b APN 4 129,472,011 (GRCm39) missense probably benign 0.24
IGL03057:Fam167b APN 4 129,471,960 (GRCm39) missense possibly damaging 0.94
R0648:Fam167b UTSW 4 129,472,150 (GRCm39) missense probably benign 0.24
R0725:Fam167b UTSW 4 129,472,078 (GRCm39) missense probably damaging 0.99
R1681:Fam167b UTSW 4 129,472,069 (GRCm39) missense probably benign 0.34
R4755:Fam167b UTSW 4 129,472,135 (GRCm39) missense probably damaging 0.98
R6108:Fam167b UTSW 4 129,472,101 (GRCm39) nonsense probably null
R9189:Fam167b UTSW 4 129,470,875 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGGCTCAAAGACCCCATG -3'
(R):5'- TCAGCACACACTCTTGGCAC -3'

Sequencing Primer
(F):5'- TCACCAGCTCCCGTCTGAG -3'
(R):5'- ACACTCTTGGCACATTCTTTTCAAC -3'
Posted On 2016-09-06