Incidental Mutation 'R2380:Fam169a'
ID 248442
Institutional Source Beutler Lab
Gene Symbol Fam169a
Ensembl Gene ENSMUSG00000041817
Gene Name family with sequence similarity 169, member A
Synonyms B230112C05Rik
MMRRC Submission 040356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2380 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 97203795-97266801 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 97255043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000169863]
AlphaFold Q5XG69
Predicted Effect probably benign
Transcript: ENSMUST00000042517
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169863
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,949,036 (GRCm39) S978P possibly damaging Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Ampd3 C T 7: 110,399,917 (GRCm39) T344M probably damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm C T 1: 139,407,086 (GRCm39) A1991V probably damaging Het
Axdnd1 A T 1: 156,193,221 (GRCm39) D655E probably benign Het
Bdp1 T C 13: 100,196,878 (GRCm39) H1169R probably benign Het
Cacna1s T C 1: 136,023,586 (GRCm39) F942L probably damaging Het
Camk2g A G 14: 20,789,455 (GRCm39) I205T probably damaging Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Csmd1 A G 8: 16,240,101 (GRCm39) C1104R probably damaging Het
Dhrs7c G A 11: 67,706,690 (GRCm39) V283M probably benign Het
Emilin2 T A 17: 71,617,219 (GRCm39) Q64L probably benign Het
Enpp3 T C 10: 24,652,770 (GRCm39) E729G probably benign Het
Gvin-ps3 T C 7: 105,681,374 (GRCm39) E627G possibly damaging Het
Hmcn1 T A 1: 150,441,135 (GRCm39) M5374L probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Itgae A G 11: 73,036,395 (GRCm39) E1111G probably benign Het
Kcmf1 A G 6: 72,835,755 (GRCm39) probably null Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Lig1 T C 7: 13,037,722 (GRCm39) probably benign Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Ncor2 A G 5: 125,113,144 (GRCm39) V1216A possibly damaging Het
Or52e3 A T 7: 102,869,815 (GRCm39) T297S possibly damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp5c A G 7: 16,740,040 (GRCm39) Y434H probably damaging Het
Pwwp2b A G 7: 138,835,366 (GRCm39) E269G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Utp6 A G 11: 79,826,831 (GRCm39) S582P possibly damaging Het
Zbtb41 T C 1: 139,351,552 (GRCm39) S222P probably damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Fam169a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Fam169a APN 13 97,259,207 (GRCm39) missense probably benign 0.00
IGL01380:Fam169a APN 13 97,228,459 (GRCm39) missense probably damaging 0.97
IGL01761:Fam169a APN 13 97,228,426 (GRCm39) missense possibly damaging 0.92
IGL02628:Fam169a APN 13 97,247,796 (GRCm39) splice site probably benign
IGL02739:Fam169a APN 13 97,230,563 (GRCm39) splice site probably benign
IGL03171:Fam169a APN 13 97,246,522 (GRCm39) splice site probably benign
IGL03306:Fam169a APN 13 97,243,497 (GRCm39) missense possibly damaging 0.66
IGL03377:Fam169a APN 13 97,228,381 (GRCm39) missense probably benign 0.04
IGL02980:Fam169a UTSW 13 97,250,188 (GRCm39) critical splice donor site probably null
R0282:Fam169a UTSW 13 97,234,223 (GRCm39) splice site probably benign
R1319:Fam169a UTSW 13 97,234,070 (GRCm39) missense probably damaging 1.00
R1468:Fam169a UTSW 13 97,255,038 (GRCm39) missense probably benign 0.01
R1468:Fam169a UTSW 13 97,255,038 (GRCm39) missense probably benign 0.01
R2037:Fam169a UTSW 13 97,243,600 (GRCm39) missense probably benign 0.37
R3805:Fam169a UTSW 13 97,234,192 (GRCm39) missense probably benign 0.00
R4434:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4435:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4437:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4590:Fam169a UTSW 13 97,234,093 (GRCm39) missense probably benign 0.02
R4896:Fam169a UTSW 13 97,234,100 (GRCm39) missense probably damaging 1.00
R5004:Fam169a UTSW 13 97,234,100 (GRCm39) missense probably damaging 1.00
R5276:Fam169a UTSW 13 97,255,004 (GRCm39) missense probably benign 0.01
R5370:Fam169a UTSW 13 97,243,470 (GRCm39) missense probably damaging 1.00
R5687:Fam169a UTSW 13 97,230,126 (GRCm39) missense probably damaging 1.00
R6151:Fam169a UTSW 13 97,230,138 (GRCm39) missense probably damaging 1.00
R7711:Fam169a UTSW 13 97,263,196 (GRCm39) nonsense probably null
R8322:Fam169a UTSW 13 97,259,260 (GRCm39) missense probably benign 0.00
R8493:Fam169a UTSW 13 97,259,367 (GRCm39) missense probably benign 0.00
R8698:Fam169a UTSW 13 97,243,578 (GRCm39) missense probably damaging 1.00
R8794:Fam169a UTSW 13 97,250,628 (GRCm39) missense possibly damaging 0.85
R9231:Fam169a UTSW 13 97,254,967 (GRCm39) missense probably benign 0.08
R9479:Fam169a UTSW 13 97,250,695 (GRCm39) missense possibly damaging 0.94
R9479:Fam169a UTSW 13 97,246,543 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TGCCCGACTATACCAGAGTTC -3'
(R):5'- TCAACATCTGTGTACTTGCTAAGTG -3'

Sequencing Primer
(F):5'- ACCAGAGTTCCTGATTTCATCAACTG -3'
(R):5'- ACTTGCTAAGTGTATTTAATTCCACC -3'
Posted On 2014-11-11