Incidental Mutation 'R3789:Fam60a'
ID272436
Institutional Source Beutler Lab
Gene Symbol Fam60a
Ensembl Gene ENSMUSG00000039985
Gene Namefamily with sequence similarity 60, member A
SynonymsPptcs1, Tera
MMRRC Submission 041604-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.942) question?
Stock #R3789 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location148921035-148946467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 148926119 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 134 (S134P)
Ref Sequence ENSEMBL: ENSMUSP00000115417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054080] [ENSMUST00000081956] [ENSMUST00000111562] [ENSMUST00000132696] [ENSMUST00000139355] [ENSMUST00000146457] [ENSMUST00000203164] [ENSMUST00000204119] [ENSMUST00000204435] [ENSMUST00000204590]
Predicted Effect probably benign
Transcript: ENSMUST00000054080
AA Change: S134P

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000050952
Gene: ENSMUSG00000039985
AA Change: S134P

DomainStartEndE-ValueType
Pfam:FAM60A 2 198 5.2e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081956
AA Change: S134P

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107188
Gene: ENSMUSG00000039985
AA Change: S134P

DomainStartEndE-ValueType
Pfam:FAM60A 2 200 5.5e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111562
AA Change: S134P

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107187
Gene: ENSMUSG00000039985
AA Change: S134P

DomainStartEndE-ValueType
Pfam:FAM60A 2 200 5.5e-92 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132696
AA Change: S134P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115417
Gene: ENSMUSG00000039985
AA Change: S134P

DomainStartEndE-ValueType
Pfam:FAM60A 2 156 2.8e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139355
SMART Domains Protein: ENSMUSP00000119540
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 95 6.3e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146457
SMART Domains Protein: ENSMUSP00000117859
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 53 1.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203164
SMART Domains Protein: ENSMUSP00000145370
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 133 8.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204119
Predicted Effect probably benign
Transcript: ENSMUST00000204435
AA Change: S134P

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000145487
Gene: ENSMUSG00000039985
AA Change: S134P

DomainStartEndE-ValueType
Pfam:FAM60A 2 198 5.2e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204590
Meta Mutation Damage Score 0.1430 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104L09Rik C A 2: 148,847,958 E92* probably null Het
Abca13 T A 11: 9,510,668 I4226N probably damaging Het
Abhd16a A G 17: 35,101,587 N411S probably damaging Het
Acvrl1 C T 15: 101,137,469 T292M probably damaging Het
Adamts8 T C 9: 30,959,292 S688P probably damaging Het
Adprhl2 A T 4: 126,316,751 I312N probably damaging Het
Bclaf3 A G X: 159,566,496 H619R probably benign Het
Clca4a C A 3: 144,974,956 G20V probably damaging Het
Col12a1 C A 9: 79,639,723 V2276L possibly damaging Het
Drosha T A 15: 12,912,537 Y1080* probably null Het
Dysf G A 6: 84,186,509 probably null Het
Ebf2 T A 14: 67,239,493 probably null Het
Emc8 T C 8: 120,658,130 T195A probably benign Het
Frs3 G A 17: 47,699,696 probably null Het
Fsip2 T C 2: 82,982,714 S640P probably damaging Het
Hdhd2 G A 18: 76,955,187 probably null Het
Hivep3 T C 4: 120,098,416 S1310P probably damaging Het
Hltf C T 3: 20,069,047 P200S probably damaging Het
Lnpk A T 2: 74,522,263 S358R probably benign Het
Lrp1 T C 10: 127,571,969 D1817G possibly damaging Het
Lrpprc T C 17: 84,771,528 I253V probably benign Het
Map2 A G 1: 66,416,863 T1512A probably damaging Het
Mcm9 G A 10: 53,616,017 R403W probably damaging Het
Mms22l A G 4: 24,517,115 D222G possibly damaging Het
Mug1 G A 6: 121,884,628 V1350I probably benign Het
Olfr663 T A 7: 104,703,949 D127E probably damaging Het
Pclo A G 5: 14,680,450 probably benign Het
Plekha7 A C 7: 116,175,734 I175R probably damaging Het
Plxnb1 T A 9: 109,109,287 V1303D possibly damaging Het
Pou2f1 G C 1: 165,894,969 P349R probably damaging Het
Prmt8 A T 6: 127,711,147 I236N probably damaging Het
Rexo2 A G 9: 48,473,062 I139T probably damaging Het
Rsbn1l A C 5: 20,896,108 S811R probably benign Het
Sec24b T C 3: 130,020,627 D345G probably benign Het
Serpina1b A G 12: 103,729,272 S337P probably damaging Het
Snx33 T C 9: 56,918,560 E539G probably benign Het
Sorcs3 A G 19: 48,398,711 T212A possibly damaging Het
Spa17 T G 9: 37,611,845 K49Q possibly damaging Het
St3gal6 C T 16: 58,484,773 E109K probably benign Het
Stat4 A G 1: 52,011,796 N5D probably benign Het
Tmem232 C T 17: 65,382,525 D532N probably benign Het
Tmem232 C A 17: 65,382,633 D496Y possibly damaging Het
Tmem81 A G 1: 132,508,071 N205S probably benign Het
Tomm20l C T 12: 71,111,742 A58V possibly damaging Het
Ttn A G 2: 76,974,208 V240A probably benign Het
Vmn2r23 A T 6: 123,741,389 N567I probably damaging Het
Other mutations in Fam60a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Fam60a APN 6 148928507 critical splice donor site probably null
R0637:Fam60a UTSW 6 148930665 intron probably benign
R0710:Fam60a UTSW 6 148933000 critical splice donor site probably null
R3788:Fam60a UTSW 6 148926119 missense possibly damaging 0.86
R4896:Fam60a UTSW 6 148933000 critical splice donor site probably null
R5574:Fam60a UTSW 6 148944880 unclassified probably benign
R7438:Fam60a UTSW 6 148933102 missense probably benign 0.15
R7922:Fam60a UTSW 6 148926146 missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- ATGCCACCAGTTACCTGTC -3'
(R):5'- ATGGTGCAAACATGCTGTTGTAG -3'

Sequencing Primer
(F):5'- AGTTACCTGTCAATACTCTCAACTG -3'
(R):5'- TTTCCCCTGCTAGAGATG -3'
Posted On2015-03-25