Incidental Mutation 'R5408:Fam171a2'
ID 426411
Institutional Source Beutler Lab
Gene Symbol Fam171a2
Ensembl Gene ENSMUSG00000034685
Gene Name family with sequence similarity 171, member A2
Synonyms
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5408 (G1)
Quality Score 152
Status Validated
Chromosome 11
Chromosomal Location 102327807-102338508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102328344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 805 (K805R)
Ref Sequence ENSEMBL: ENSMUSP00000038486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819] [ENSMUST00000129997]
AlphaFold A2A699
Predicted Effect possibly damaging
Transcript: ENSMUST00000049057
AA Change: K805R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: K805R

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: ENSMUST00000145190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148580
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 0.1740 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly 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
R0632:Fam171a2 UTSW 11 102,328,707 (GRCm39) missense probably damaging 0.99
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
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'- TCTGTTTGGAGGCCAATCC -3'
(R):5'- ACTCCTACATCGACCTGCAG -3'

Sequencing Primer
(F):5'- GGGTCCCTTCCCAAGACACTC -3'
(R):5'- ATGCCAGCCTGGACTCAG -3'
Posted On 2016-09-01