Incidental Mutation 'R0632:Fam171a2'
ID 218788
Institutional Source Beutler Lab
Gene Symbol Fam171a2
Ensembl Gene ENSMUSG00000034685
Gene Name family with sequence similarity 171, member A2
Synonyms
MMRRC Submission 038821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R0632 (G1)
Quality Score 49
Status Validated
Chromosome 11
Chromosomal Location 102327807-102338508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102328707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 684 (D684V)
Ref Sequence ENSEMBL: ENSMUSP00000038486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819] [ENSMUST00000129997]
AlphaFold A2A699
Predicted Effect probably damaging
Transcript: ENSMUST00000049057
AA Change: D684V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: D684V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UPF0560 41 820 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049460
SMART Domains Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
GRAN 74 125 1.32e-22 SMART
GRAN 138 190 7.38e-26 SMART
GRAN 220 272 5.76e-28 SMART
GRAN 295 346 1.19e-29 SMART
GRAN 377 427 1.84e-26 SMART
GRAN 455 506 7.1e-28 SMART
GRAN 530 581 1.48e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123500
Predicted Effect probably benign
Transcript: ENSMUST00000125819
SMART Domains Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
GRAN 42 72 5.03e-4 SMART
GRAN 100 151 7.1e-28 SMART
GRAN 175 226 1.48e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127530
Predicted Effect probably benign
Transcript: ENSMUST00000129997
SMART Domains Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
GRAN 61 112 1.32e-22 SMART
GRAN 125 177 7.38e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176953
Predicted Effect probably benign
Transcript: ENSMUST00000177428
SMART Domains Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
GRAN 1 49 8.68e-23 SMART
GRAN 77 128 7.1e-28 SMART
GRAN 152 180 3.98e-2 SMART
low complexity region 244 259 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
Meta Mutation Damage Score 0.5432 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 95% (81/85)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a T A 9: 119,176,884 (GRCm39) probably benign Het
Adgrg7 T A 16: 56,562,952 (GRCm39) T462S possibly damaging Het
Akap6 A T 12: 52,983,931 (GRCm39) N825I probably damaging Het
Ankib1 T A 5: 3,822,529 (GRCm39) N59I probably benign Het
Anks6 T C 4: 47,033,167 (GRCm39) S633G possibly damaging Het
Ap4e1 C A 2: 126,891,200 (GRCm39) Y522* probably null Het
Art5 G A 7: 101,747,164 (GRCm39) T205I probably damaging Het
Ascc2 T A 11: 4,599,855 (GRCm39) L176H probably damaging Het
Atp13a5 T C 16: 29,117,026 (GRCm39) D529G probably benign Het
C2cd4a T C 9: 67,738,845 (GRCm39) E66G probably benign Het
C8a T C 4: 104,713,689 (GRCm39) D147G probably damaging Het
Ccdc14 T C 16: 34,542,019 (GRCm39) V532A possibly damaging Het
Ccdc88a T A 11: 29,432,749 (GRCm39) probably benign Het
Cfap54 C T 10: 92,720,958 (GRCm39) E2543K unknown Het
Cldn13 C T 5: 134,943,601 (GRCm39) E195K probably benign Het
Cp A G 3: 20,025,246 (GRCm39) S402G probably null Het
Cpa3 T C 3: 20,279,358 (GRCm39) T194A probably benign Het
Crygf C A 1: 65,967,156 (GRCm39) Y93* probably null Het
Ctsh A G 9: 89,943,635 (GRCm39) R87G possibly damaging Het
Cyp2t4 A G 7: 26,857,671 (GRCm39) D428G possibly damaging Het
Dnah17 C G 11: 117,958,508 (GRCm39) probably benign Het
Dnah3 A G 7: 119,567,128 (GRCm39) V2366A probably benign Het
Dscaml1 A T 9: 45,643,432 (GRCm39) I1284F probably benign Het
Dsg1c T C 18: 20,405,403 (GRCm39) probably benign Het
Dst G T 1: 34,310,494 (GRCm39) R4098L probably damaging Het
Efhb A G 17: 53,720,487 (GRCm39) probably benign Het
Epha7 A T 4: 28,821,104 (GRCm39) I90F probably damaging Het
Fan1 A G 7: 64,012,947 (GRCm39) V665A possibly damaging Het
Fbn2 A G 18: 58,170,819 (GRCm39) C2191R probably damaging Het
Fkbp3 G A 12: 65,120,692 (GRCm39) A2V probably benign Het
G6pd2 A G 5: 61,967,514 (GRCm39) N430D probably benign Het
Gm13547 T A 2: 29,651,596 (GRCm39) D7E possibly damaging Het
H4c9 G T 13: 22,225,197 (GRCm39) Y99* probably null Het
Hdac5 A T 11: 102,096,638 (GRCm39) D260E probably damaging Het
Hsf2bp T C 17: 32,232,320 (GRCm39) E142G probably damaging Het
Igf1r C T 7: 67,814,903 (GRCm39) T268I probably damaging Het
Inava T C 1: 136,155,356 (GRCm39) D83G probably benign Het
Kcne3 C T 7: 99,833,646 (GRCm39) R88C probably damaging Het
Klk1b9 G T 7: 43,628,796 (GRCm39) G100V possibly damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lama1 C T 17: 68,059,363 (GRCm39) probably benign Het
Lcp2 C T 11: 34,032,426 (GRCm39) P335S possibly damaging Het
Lrrk2 T A 15: 91,680,231 (GRCm39) N2047K probably damaging Het
Mcub T C 3: 129,712,375 (GRCm39) M167V probably benign Het
Mia2 T C 12: 59,182,929 (GRCm39) L36P probably damaging Het
Mmp13 G A 9: 7,274,032 (GRCm39) G169R probably damaging Het
Mmp13 A T 9: 7,282,077 (GRCm39) I460F possibly damaging Het
Msh4 A G 3: 153,602,532 (GRCm39) I232T probably damaging Het
Msra T A 14: 64,447,981 (GRCm39) M145L probably benign Het
Myo7a A T 7: 97,761,357 (GRCm39) probably benign Het
Nme8 A T 13: 19,842,206 (GRCm39) N422K probably damaging Het
Nol6 A T 4: 41,121,115 (GRCm39) F353I probably damaging Het
Nphp3 A G 9: 103,895,473 (GRCm39) K384E probably damaging Het
Or51h5 C T 7: 102,577,811 (GRCm39) probably null Het
Or52e15 A G 7: 104,645,910 (GRCm39) I67T probably benign Het
Or52h7 A G 7: 104,213,544 (GRCm39) I39V probably benign Het
Phox2b T G 5: 67,253,557 (GRCm39) probably benign Het
Plec A T 15: 76,057,611 (GRCm39) S4131T probably damaging Het
Pptc7 G A 5: 122,451,654 (GRCm39) probably benign Het
Pramel31 G A 4: 144,090,352 (GRCm39) C464Y probably damaging Het
Prpf40b A G 15: 99,214,170 (GRCm39) E810G probably benign Het
Ptprc C T 1: 138,001,348 (GRCm39) V965I probably benign Het
Pum1 T A 4: 130,455,415 (GRCm39) M180K probably benign Het
Ranbp3 T C 17: 57,009,896 (GRCm39) probably benign Het
Rasgrf2 A G 13: 92,120,393 (GRCm39) S787P probably benign Het
Rnf19b T A 4: 128,967,344 (GRCm39) N294K probably damaging Het
Samd3 A T 10: 26,120,393 (GRCm39) H156L possibly damaging Het
Serpinb6c C T 13: 34,064,014 (GRCm39) R347Q possibly damaging Het
Slc36a3 A G 11: 55,015,906 (GRCm39) I416T probably damaging Het
Slc4a4 T A 5: 89,277,500 (GRCm39) F279Y probably damaging Het
Slc6a2 T A 8: 93,719,429 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tab2 A G 10: 7,795,565 (GRCm39) S232P probably benign Het
Tacc2 A T 7: 130,227,325 (GRCm39) K1356* probably null Het
Tmem87a A G 2: 120,190,023 (GRCm39) S544P probably damaging Het
Trim52 T A 14: 106,344,401 (GRCm39) C20S probably damaging Het
Usp38 A T 8: 81,740,779 (GRCm39) V96E probably benign Het
Vmn2r59 T C 7: 41,708,308 (GRCm39) Y33C probably damaging Het
Vsig10l T G 7: 43,113,561 (GRCm39) V171G probably damaging Het
Zfp957 T A 14: 79,450,360 (GRCm39) I480F probably damaging Het
Other mutations in Fam171a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Fam171a2 APN 11 102,328,674 (GRCm39) missense possibly damaging 0.92
IGL01898:Fam171a2 APN 11 102,330,582 (GRCm39) missense possibly damaging 0.88
IGL02477:Fam171a2 APN 11 102,330,854 (GRCm39) missense probably benign 0.00
IGL03272:Fam171a2 APN 11 102,334,944 (GRCm39) missense possibly damaging 0.58
R0102:Fam171a2 UTSW 11 102,334,939 (GRCm39) missense possibly damaging 0.88
R0102:Fam171a2 UTSW 11 102,334,939 (GRCm39) missense possibly damaging 0.88
R0733:Fam171a2 UTSW 11 102,330,548 (GRCm39) missense possibly damaging 0.83
R1005:Fam171a2 UTSW 11 102,331,007 (GRCm39) missense probably benign 0.05
R1323:Fam171a2 UTSW 11 102,334,951 (GRCm39) missense probably damaging 0.99
R1323:Fam171a2 UTSW 11 102,334,951 (GRCm39) missense probably damaging 0.99
R2425:Fam171a2 UTSW 11 102,329,187 (GRCm39) missense possibly damaging 0.88
R4838:Fam171a2 UTSW 11 102,329,511 (GRCm39) missense possibly damaging 0.88
R4858:Fam171a2 UTSW 11 102,330,982 (GRCm39) missense probably damaging 1.00
R5119:Fam171a2 UTSW 11 102,329,559 (GRCm39) missense probably damaging 0.97
R5384:Fam171a2 UTSW 11 102,328,693 (GRCm39) missense possibly damaging 0.51
R5386:Fam171a2 UTSW 11 102,328,693 (GRCm39) missense possibly damaging 0.51
R5408:Fam171a2 UTSW 11 102,328,344 (GRCm39) missense possibly damaging 0.71
R5457:Fam171a2 UTSW 11 102,328,362 (GRCm39) missense possibly damaging 0.92
R5732:Fam171a2 UTSW 11 102,330,807 (GRCm39) missense possibly damaging 0.94
R6466:Fam171a2 UTSW 11 102,330,711 (GRCm39) missense probably damaging 1.00
R6931:Fam171a2 UTSW 11 102,329,260 (GRCm39) missense possibly damaging 0.95
R7196:Fam171a2 UTSW 11 102,329,172 (GRCm39) missense probably benign 0.04
R7261:Fam171a2 UTSW 11 102,328,900 (GRCm39) missense probably damaging 0.98
R7295:Fam171a2 UTSW 11 102,329,064 (GRCm39) missense possibly damaging 0.85
R7419:Fam171a2 UTSW 11 102,329,628 (GRCm39) missense possibly damaging 0.95
R7422:Fam171a2 UTSW 11 102,329,491 (GRCm39) missense probably benign 0.29
R7454:Fam171a2 UTSW 11 102,330,543 (GRCm39) missense possibly damaging 0.88
R7606:Fam171a2 UTSW 11 102,335,002 (GRCm39) missense possibly damaging 0.75
R7690:Fam171a2 UTSW 11 102,328,660 (GRCm39) missense probably benign 0.04
R7754:Fam171a2 UTSW 11 102,329,389 (GRCm39) missense probably benign 0.00
R7970:Fam171a2 UTSW 11 102,328,692 (GRCm39) missense possibly damaging 0.93
R8060:Fam171a2 UTSW 11 102,329,436 (GRCm39) missense possibly damaging 0.88
R8338:Fam171a2 UTSW 11 102,329,172 (GRCm39) missense probably benign 0.10
R8924:Fam171a2 UTSW 11 102,330,861 (GRCm39) missense possibly damaging 0.94
R8976:Fam171a2 UTSW 11 102,329,451 (GRCm39) missense possibly damaging 0.46
R9116:Fam171a2 UTSW 11 102,330,519 (GRCm39) missense probably damaging 0.98
R9155:Fam171a2 UTSW 11 102,329,497 (GRCm39) missense probably benign 0.28
R9346:Fam171a2 UTSW 11 102,328,771 (GRCm39) missense possibly damaging 0.87
Z1176:Fam171a2 UTSW 11 102,338,272 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGACGTTGAACACCATTAGCGGC -3'
(R):5'- TGCAGGCTCTAACCGAGAAGAAGC -3'

Sequencing Primer
(F):5'- GTTAGCGAGTTGTCCTCCG -3'
(R):5'- TCTAACCGAGAAGAAGCTGCTG -3'
Posted On 2014-08-21