Incidental Mutation 'R7289:Fam120a'
ID 566270
Institutional Source Beutler Lab
Gene Symbol Fam120a
Ensembl Gene ENSMUSG00000038014
Gene Name family with sequence similarity 120, member A
Synonyms
MMRRC Submission 045396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7289 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49032695-49121493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49045482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 785 (C785S)
Ref Sequence ENSEMBL: ENSMUSP00000053877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060805]
AlphaFold Q6A0A9
Predicted Effect probably damaging
Transcript: ENSMUST00000060805
AA Change: C785S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: C785S

DomainStartEndE-ValueType
Blast:XPGN 1 112 1e-15 BLAST
low complexity region 348 361 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
low complexity region 852 866 N/A INTRINSIC
low complexity region 881 897 N/A INTRINSIC
low complexity region 959 966 N/A INTRINSIC
low complexity region 972 986 N/A INTRINSIC
low complexity region 996 1006 N/A INTRINSIC
low complexity region 1026 1044 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,818,550 (GRCm39) D112N probably damaging Het
Abca7 T A 10: 79,845,778 (GRCm39) I1580K probably damaging Het
Aebp1 A G 11: 5,815,059 (GRCm39) D234G probably damaging Het
Agap1 T A 1: 89,383,153 (GRCm39) M1K probably null Het
Agrn A T 4: 156,263,389 (GRCm39) L345H probably damaging Het
Amfr A G 8: 94,725,754 (GRCm39) M209T possibly damaging Het
Angel2 G A 1: 190,673,371 (GRCm39) R338H possibly damaging Het
Ankrd27 C T 7: 35,330,674 (GRCm39) A866V probably damaging Het
Apc G A 18: 34,448,324 (GRCm39) R1740Q probably damaging Het
Arhgap32 A T 9: 32,168,233 (GRCm39) S739C possibly damaging Het
Arhgap32 G C 9: 32,168,234 (GRCm39) S739T probably benign Het
Arhgef2 C T 3: 88,543,192 (GRCm39) S418L probably benign Het
Arhgef25 T C 10: 127,019,641 (GRCm39) T472A possibly damaging Het
Atrnl1 C T 19: 57,638,846 (GRCm39) S328F probably benign Het
Bahcc1 C T 11: 120,171,000 (GRCm39) A1514V probably benign Het
Calcoco2 C T 11: 95,990,823 (GRCm39) E305K unknown Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdc42bpa A T 1: 179,889,362 (GRCm39) K203* probably null Het
Cmc1 A T 9: 117,904,250 (GRCm39) I47N possibly damaging Het
Cntln A G 4: 84,964,540 (GRCm39) E656G possibly damaging Het
Dcun1d3 T C 7: 119,458,864 (GRCm39) K57R possibly damaging Het
Ddx23 T C 15: 98,546,492 (GRCm39) E559G probably damaging Het
Dennd6a G A 14: 26,333,193 (GRCm39) R367Q probably damaging Het
Desi2 A T 1: 178,083,702 (GRCm39) probably benign Het
Dido1 T C 2: 180,301,424 (GRCm39) D2160G unknown Het
Efcab3 T C 11: 104,929,184 (GRCm39) M4838T probably benign Het
Epb41 A G 4: 131,718,520 (GRCm39) probably null Het
Esrrb T A 12: 86,517,331 (GRCm39) probably null Het
Fabp1 C A 6: 71,180,111 (GRCm39) T94N probably benign Het
Fam243 T C 16: 92,117,710 (GRCm39) I193V probably damaging Het
Foxc1 A G 13: 31,991,243 (GRCm39) Y18C probably damaging Het
Fshr T C 17: 89,293,272 (GRCm39) T469A probably benign Het
Gm14399 T A 2: 174,972,204 (GRCm39) H517L unknown Het
Gm39115 G T 7: 141,689,297 (GRCm39) Q159K unknown Het
Gm7347 T A 5: 26,262,306 (GRCm39) I72F possibly damaging Het
Hmcn1 A G 1: 150,559,466 (GRCm39) V2395A possibly damaging Het
Ighv5-17 T G 12: 113,822,858 (GRCm39) T88P probably damaging Het
Insm2 T A 12: 55,647,329 (GRCm39) Y358N probably damaging Het
Kazn A T 4: 141,844,486 (GRCm39) L409Q Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kcnv2 A T 19: 27,311,084 (GRCm39) T484S probably damaging Het
Kdm3b T C 18: 34,927,557 (GRCm39) Y140H probably benign Het
Kifbp A C 10: 62,401,895 (GRCm39) C261W probably damaging Het
Krt25 C T 11: 99,212,098 (GRCm39) A180T probably benign Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Nr3c1 T C 18: 39,547,654 (GRCm39) T755A probably benign Het
Nr3c1 A T 18: 39,555,786 (GRCm39) I517N probably benign Het
Nxpe2 A G 9: 48,234,339 (GRCm39) probably null Het
Oaz1 C A 10: 80,662,673 (GRCm39) T27K possibly damaging Het
Or4p7 A T 2: 88,222,050 (GRCm39) H153L probably damaging Het
Or51f5 T C 7: 102,424,634 (GRCm39) I301T probably damaging Het
Or5t5 G T 2: 86,617,034 (GRCm39) C320F probably benign Het
Or6z3 T A 7: 6,463,777 (GRCm39) W90R probably benign Het
Or8k21 A G 2: 86,145,369 (GRCm39) M87T probably benign Het
Or8s5 A G 15: 98,237,943 (GRCm39) V309A probably damaging Het
Pafah2 A T 4: 134,147,308 (GRCm39) K319M probably damaging Het
Pask A T 1: 93,259,309 (GRCm39) V236E probably damaging Het
Pcdh1 T C 18: 38,322,966 (GRCm39) T956A probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Pcsk2 A T 2: 143,532,343 (GRCm39) I164F probably damaging Het
Phf1 T C 17: 27,154,289 (GRCm39) Y169H probably damaging Het
Pkdrej T A 15: 85,705,301 (GRCm39) I212F probably benign Het
Pnkp T A 7: 44,508,114 (GRCm39) W146R probably damaging Het
Prkcb A T 7: 122,143,910 (GRCm39) I325F probably benign Het
Ptpn21 C T 12: 98,670,450 (GRCm39) D239N probably benign Het
Ptprb A G 10: 116,164,070 (GRCm39) T626A probably damaging Het
Pttg1 T C 11: 43,311,916 (GRCm39) N180D probably benign Het
Raly G A 2: 154,703,774 (GRCm39) R115Q probably damaging Het
Rims2 A T 15: 39,301,114 (GRCm39) M474L probably benign Het
Sash1 A T 10: 8,605,960 (GRCm39) I810N probably damaging Het
Scnn1g T A 7: 121,337,304 (GRCm39) L55* probably null Het
Sema6b A T 17: 56,432,573 (GRCm39) D543E possibly damaging Het
Serpina11 C T 12: 103,952,761 (GRCm39) G5E unknown Het
Sesn3 A T 9: 14,187,848 (GRCm39) M1L probably benign Het
Sez6 T A 11: 77,865,149 (GRCm39) I632N possibly damaging Het
Sgo2b A T 8: 64,394,192 (GRCm39) I49N probably damaging Het
Slc30a2 A T 4: 134,071,524 (GRCm39) I86F possibly damaging Het
Slc38a6 T A 12: 73,333,786 (GRCm39) W30R probably benign Het
Spata31g1 A T 4: 42,972,379 (GRCm39) T571S probably benign Het
Spata31g1 A T 4: 42,973,252 (GRCm39) I862F possibly damaging Het
Stk31 T G 6: 49,415,393 (GRCm39) V576G probably benign Het
Szt2 G A 4: 118,233,075 (GRCm39) T2297I unknown Het
Tmem208 T C 8: 106,061,418 (GRCm39) F148S possibly damaging Het
Tprg1l A G 4: 154,245,031 (GRCm39) L19P possibly damaging Het
Tubg2 C A 11: 101,050,897 (GRCm39) N207K probably damaging Het
Ube2n G T 10: 95,377,612 (GRCm39) K130N probably benign Het
Usp36 T C 11: 118,164,355 (GRCm39) Y384C probably damaging Het
Vcan A T 13: 89,840,852 (GRCm39) L1564* probably null Het
Xkr6 A T 14: 64,035,748 (GRCm39) D283V unknown Het
Zfp654 T C 16: 64,605,523 (GRCm39) H352R probably benign Het
Zfp819 T A 7: 43,266,506 (GRCm39) C330S probably damaging Het
Zfp970 G T 2: 177,167,086 (GRCm39) C220F probably damaging Het
Other mutations in Fam120a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Fam120a APN 13 49,042,609 (GRCm39) missense probably benign
IGL01087:Fam120a APN 13 49,055,549 (GRCm39) missense probably damaging 1.00
IGL02052:Fam120a APN 13 49,087,421 (GRCm39) splice site probably benign
IGL02409:Fam120a APN 13 49,120,835 (GRCm39) missense probably benign 0.05
IGL03172:Fam120a APN 13 49,063,812 (GRCm39) missense probably damaging 1.00
bumped UTSW 13 49,045,497 (GRCm39) missense probably benign 0.07
Green_flash UTSW 13 49,045,440 (GRCm39) missense probably damaging 1.00
Martini UTSW 13 49,121,114 (GRCm39) missense probably damaging 1.00
Sunset UTSW 13 49,063,726 (GRCm39) splice site probably null
upended UTSW 13 49,051,143 (GRCm39) missense probably damaging 1.00
R0036:Fam120a UTSW 13 49,042,740 (GRCm39) splice site probably benign
R0042:Fam120a UTSW 13 49,087,490 (GRCm39) missense probably damaging 1.00
R0689:Fam120a UTSW 13 49,121,114 (GRCm39) missense probably damaging 1.00
R0741:Fam120a UTSW 13 49,045,416 (GRCm39) missense possibly damaging 0.91
R0899:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R0900:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R0987:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R0989:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R0990:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R1080:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R1121:Fam120a UTSW 13 49,063,913 (GRCm39) splice site probably null
R1265:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R1423:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R1611:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R1755:Fam120a UTSW 13 49,039,219 (GRCm39) missense possibly damaging 0.70
R1888:Fam120a UTSW 13 49,039,342 (GRCm39) missense possibly damaging 0.50
R1888:Fam120a UTSW 13 49,039,342 (GRCm39) missense possibly damaging 0.50
R2041:Fam120a UTSW 13 49,051,243 (GRCm39) missense probably benign 0.01
R2433:Fam120a UTSW 13 49,087,444 (GRCm39) missense probably damaging 1.00
R2496:Fam120a UTSW 13 49,121,069 (GRCm39) missense probably damaging 0.99
R3122:Fam120a UTSW 13 49,045,562 (GRCm39) missense possibly damaging 0.45
R4279:Fam120a UTSW 13 49,042,734 (GRCm39) missense probably benign 0.00
R4758:Fam120a UTSW 13 49,034,333 (GRCm39) missense probably benign 0.02
R4924:Fam120a UTSW 13 49,055,572 (GRCm39) missense probably benign 0.04
R5000:Fam120a UTSW 13 49,051,143 (GRCm39) missense probably damaging 1.00
R5039:Fam120a UTSW 13 49,063,726 (GRCm39) splice site probably null
R5194:Fam120a UTSW 13 49,034,411 (GRCm39) missense probably benign
R5772:Fam120a UTSW 13 49,034,409 (GRCm39) missense probably benign
R6765:Fam120a UTSW 13 49,045,440 (GRCm39) missense probably damaging 1.00
R6820:Fam120a UTSW 13 49,034,468 (GRCm39) missense possibly damaging 0.51
R6833:Fam120a UTSW 13 49,087,517 (GRCm39) missense probably damaging 1.00
R6895:Fam120a UTSW 13 49,045,497 (GRCm39) missense probably benign 0.07
R6946:Fam120a UTSW 13 49,034,496 (GRCm39) missense possibly damaging 0.83
R7032:Fam120a UTSW 13 49,102,589 (GRCm39) missense probably benign 0.34
R7081:Fam120a UTSW 13 49,063,801 (GRCm39) missense probably damaging 0.98
R7503:Fam120a UTSW 13 49,102,723 (GRCm39) missense probably benign 0.00
R7978:Fam120a UTSW 13 49,055,750 (GRCm39) missense probably damaging 1.00
R8200:Fam120a UTSW 13 49,102,595 (GRCm39) missense probably damaging 0.97
R8311:Fam120a UTSW 13 49,087,433 (GRCm39) missense possibly damaging 0.84
X0003:Fam120a UTSW 13 49,102,614 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATTCCATTCCACACTAGTCAG -3'
(R):5'- TTTGAGTAAGACCGGGGCTG -3'

Sequencing Primer
(F):5'- TTCCACACTAGTCAGAGATGGCTG -3'
(R):5'- TGAAGCCAAGGTGTGCTC -3'
Posted On 2019-06-26