Incidental Mutation 'R6668:Fam135a'
ID 527047
Institutional Source Beutler Lab
Gene Symbol Fam135a
Ensembl Gene ENSMUSG00000026153
Gene Name family with sequence similarity 135, member A
Synonyms 4921533L14Rik
MMRRC Submission 044788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R6668 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 24050174-24139422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24067929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 80 (V80E)
Ref Sequence ENSEMBL: ENSMUSP00000140947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000185807] [ENSMUST00000186331] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]
AlphaFold Q6NS59
Predicted Effect possibly damaging
Transcript: ENSMUST00000027337
AA Change: V980E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: V980E

DomainStartEndE-ValueType
Pfam:DUF3657 111 172 1.9e-19 PFAM
coiled coil region 270 295 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 842 853 N/A INTRINSIC
low complexity region 1072 1085 N/A INTRINSIC
Blast:LRRNT 1139 1172 4e-6 BLAST
low complexity region 1173 1184 N/A INTRINSIC
Pfam:DUF676 1235 1431 9e-65 PFAM
Pfam:PGAP1 1237 1440 3.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185807
SMART Domains Protein: ENSMUSP00000140078
Gene: ENSMUSG00000026153

DomainStartEndE-ValueType
Blast:LRRNT 27 60 4e-7 BLAST
low complexity region 61 72 N/A INTRINSIC
Pfam:DUF676 104 161 2.2e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186331
AA Change: V80E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
AA Change: V80E

DomainStartEndE-ValueType
low complexity region 172 185 N/A INTRINSIC
Blast:LRRNT 239 272 1e-6 BLAST
low complexity region 273 284 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186999
AA Change: V810E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: V810E

DomainStartEndE-ValueType
Pfam:DUF3657 111 173 1.8e-15 PFAM
Pfam:DUF3657 338 395 7.3e-8 PFAM
low complexity region 672 683 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000187369
AA Change: V784E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: V784E

DomainStartEndE-ValueType
Pfam:DUF3657 111 173 3e-15 PFAM
coiled coil region 270 295 N/A INTRINSIC
Pfam:DUF3657 312 369 1.2e-7 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 876 889 N/A INTRINSIC
Blast:LRRNT 943 976 4e-6 BLAST
low complexity region 977 988 N/A INTRINSIC
Pfam:DUF676 1039 1235 6.8e-62 PFAM
Pfam:PGAP1 1041 1259 8.1e-5 PFAM
Pfam:LCAT 1097 1203 2.3e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187619
Predicted Effect possibly damaging
Transcript: ENSMUST00000187752
AA Change: V767E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: V767E

DomainStartEndE-ValueType
Pfam:DUF3657 68 130 3e-15 PFAM
Pfam:DUF3657 295 352 1.2e-7 PFAM
low complexity region 629 640 N/A INTRINSIC
low complexity region 859 872 N/A INTRINSIC
Blast:LRRNT 926 959 4e-6 BLAST
low complexity region 960 971 N/A INTRINSIC
Pfam:DUF676 1022 1218 6.7e-62 PFAM
Pfam:PGAP1 1024 1242 8e-5 PFAM
Pfam:LCAT 1080 1186 2.2e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188712
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,486,868 (GRCm39) probably benign Het
Adam26b A T 8: 43,973,727 (GRCm39) V425D possibly damaging Het
Ahctf1 A G 1: 179,579,972 (GRCm39) S2077P probably benign Het
Amacr A G 15: 10,983,468 (GRCm39) T93A probably benign Het
Arsb T A 13: 93,930,728 (GRCm39) probably null Het
Bcas3 G A 11: 85,692,677 (GRCm39) R354Q probably damaging Het
Chia1 C T 3: 106,038,264 (GRCm39) L387F probably damaging Het
Cyp24a1 A T 2: 170,327,805 (GRCm39) probably null Het
Dennd4a G A 9: 64,794,247 (GRCm39) G689S probably damaging Het
Elovl4 G A 9: 83,688,039 (GRCm39) A18V probably benign Het
Fmo2 T A 1: 162,704,617 (GRCm39) T430S probably benign Het
Fpgs T C 2: 32,577,618 (GRCm39) I213V probably benign Het
Gm10134 A T 2: 28,396,263 (GRCm39) R53* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ift172 T C 5: 31,412,683 (GRCm39) N1524S probably benign Het
Kif1b G A 4: 149,297,864 (GRCm39) S1104F probably benign Het
Map3k21 T C 8: 126,652,852 (GRCm39) V326A possibly damaging Het
Mlst8 A G 17: 24,696,453 (GRCm39) probably null Het
Muc16 A T 9: 18,551,681 (GRCm39) S4871T probably benign Het
Myo1d A G 11: 80,474,701 (GRCm39) probably benign Het
Ndufa3 A G 7: 3,622,465 (GRCm39) Y41C probably damaging Het
Nfkbid T A 7: 30,123,866 (GRCm39) L142Q probably benign Het
Or8b38 T A 9: 37,973,066 (GRCm39) M150K possibly damaging Het
Peg10 T A 6: 4,754,502 (GRCm39) D94E probably benign Het
Phactr3 A T 2: 177,974,657 (GRCm39) I492F probably damaging Het
Plxna2 T C 1: 194,492,396 (GRCm39) V1751A possibly damaging Het
Prss16 T C 13: 22,190,918 (GRCm39) E238G probably null Het
Rad51ap2 T C 12: 11,507,647 (GRCm39) V523A probably benign Het
Rbm33 T A 5: 28,547,498 (GRCm39) S223T probably benign Het
Ryk T A 9: 102,746,475 (GRCm39) F137I possibly damaging Het
Sars2 G A 7: 28,446,429 (GRCm39) E194K probably benign Het
Spata2l T C 8: 123,960,167 (GRCm39) D374G probably damaging Het
Tenm2 A G 11: 35,937,592 (GRCm39) probably null Het
Ubr4 A G 4: 139,192,652 (GRCm39) K1097E probably damaging Het
Ulk4 A T 9: 121,017,408 (GRCm39) V690E probably damaging Het
Usp34 A G 11: 23,410,659 (GRCm39) N2703S probably damaging Het
Zfp273 C G 13: 67,973,243 (GRCm39) L124V probably damaging Het
Zfp608 A G 18: 55,031,091 (GRCm39) S950P probably damaging Het
Zfp994 A T 17: 22,420,081 (GRCm39) H289Q probably damaging Het
Other mutations in Fam135a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Fam135a APN 1 24,094,979 (GRCm39) missense probably damaging 1.00
IGL01993:Fam135a APN 1 24,094,992 (GRCm39) missense probably damaging 0.99
IGL02172:Fam135a APN 1 24,063,861 (GRCm39) critical splice donor site probably null
IGL02832:Fam135a APN 1 24,067,714 (GRCm39) missense probably benign 0.00
IGL03075:Fam135a APN 1 24,069,987 (GRCm39) splice site probably benign
IGL03197:Fam135a APN 1 24,083,263 (GRCm39) missense probably damaging 1.00
IGL03214:Fam135a APN 1 24,092,357 (GRCm39) missense probably damaging 1.00
IGL03355:Fam135a APN 1 24,068,249 (GRCm39) missense possibly damaging 0.93
PIT4434001:Fam135a UTSW 1 24,068,276 (GRCm39) missense probably benign
R0276:Fam135a UTSW 1 24,107,045 (GRCm39) missense probably damaging 1.00
R1429:Fam135a UTSW 1 24,083,348 (GRCm39) missense probably damaging 1.00
R1553:Fam135a UTSW 1 24,060,951 (GRCm39) missense probably damaging 0.97
R1582:Fam135a UTSW 1 24,068,398 (GRCm39) missense probably damaging 1.00
R1686:Fam135a UTSW 1 24,068,887 (GRCm39) missense probably benign 0.05
R1732:Fam135a UTSW 1 24,065,734 (GRCm39) missense possibly damaging 0.71
R1859:Fam135a UTSW 1 24,069,306 (GRCm39) missense probably damaging 1.00
R1954:Fam135a UTSW 1 24,068,683 (GRCm39) missense probably damaging 1.00
R2266:Fam135a UTSW 1 24,067,878 (GRCm39) missense probably benign 0.22
R2570:Fam135a UTSW 1 24,061,045 (GRCm39) missense probably damaging 1.00
R3725:Fam135a UTSW 1 24,096,515 (GRCm39) nonsense probably null
R3740:Fam135a UTSW 1 24,053,892 (GRCm39) missense probably damaging 0.99
R3741:Fam135a UTSW 1 24,053,892 (GRCm39) missense probably damaging 0.99
R3765:Fam135a UTSW 1 24,094,958 (GRCm39) missense possibly damaging 0.95
R3792:Fam135a UTSW 1 24,067,392 (GRCm39) missense probably benign 0.14
R3940:Fam135a UTSW 1 24,096,556 (GRCm39) missense probably damaging 0.98
R3946:Fam135a UTSW 1 24,069,475 (GRCm39) missense probably damaging 0.96
R4754:Fam135a UTSW 1 24,067,835 (GRCm39) nonsense probably null
R4794:Fam135a UTSW 1 24,068,241 (GRCm39) missense probably benign 0.36
R4887:Fam135a UTSW 1 24,063,334 (GRCm39) nonsense probably null
R4891:Fam135a UTSW 1 24,069,409 (GRCm39) missense probably benign 0.00
R4929:Fam135a UTSW 1 24,069,081 (GRCm39) missense probably benign 0.16
R4999:Fam135a UTSW 1 24,059,758 (GRCm39) missense possibly damaging 0.83
R5092:Fam135a UTSW 1 24,067,888 (GRCm39) missense probably benign 0.11
R5205:Fam135a UTSW 1 24,068,592 (GRCm39) missense probably benign 0.05
R5313:Fam135a UTSW 1 24,067,666 (GRCm39) missense possibly damaging 0.89
R5579:Fam135a UTSW 1 24,068,808 (GRCm39) missense possibly damaging 0.93
R5689:Fam135a UTSW 1 24,068,134 (GRCm39) missense probably benign 0.22
R5863:Fam135a UTSW 1 24,053,863 (GRCm39) missense possibly damaging 0.94
R5869:Fam135a UTSW 1 24,068,511 (GRCm39) missense possibly damaging 0.53
R6128:Fam135a UTSW 1 24,069,821 (GRCm39) critical splice donor site probably null
R6505:Fam135a UTSW 1 24,053,953 (GRCm39) missense probably damaging 1.00
R6793:Fam135a UTSW 1 24,107,006 (GRCm39) missense possibly damaging 0.69
R6857:Fam135a UTSW 1 24,053,870 (GRCm39) missense probably damaging 0.99
R6931:Fam135a UTSW 1 24,124,568 (GRCm39) start codon destroyed probably damaging 1.00
R6977:Fam135a UTSW 1 24,093,179 (GRCm39) missense probably damaging 1.00
R7187:Fam135a UTSW 1 24,083,295 (GRCm39) missense probably damaging 1.00
R7206:Fam135a UTSW 1 24,069,354 (GRCm39) missense probably benign 0.14
R7305:Fam135a UTSW 1 24,069,939 (GRCm39) missense probably damaging 1.00
R7313:Fam135a UTSW 1 24,096,473 (GRCm39) missense probably damaging 0.98
R7420:Fam135a UTSW 1 24,051,567 (GRCm39) missense possibly damaging 0.68
R7646:Fam135a UTSW 1 24,067,704 (GRCm39) missense probably benign 0.06
R7661:Fam135a UTSW 1 24,111,843 (GRCm39) splice site probably null
R7681:Fam135a UTSW 1 24,106,996 (GRCm39) missense probably benign 0.03
R7748:Fam135a UTSW 1 24,068,050 (GRCm39) missense probably benign 0.00
R7845:Fam135a UTSW 1 24,068,738 (GRCm39) missense probably benign 0.27
R7849:Fam135a UTSW 1 24,083,331 (GRCm39) missense probably damaging 1.00
R7914:Fam135a UTSW 1 24,065,760 (GRCm39) missense probably damaging 1.00
R8236:Fam135a UTSW 1 24,059,729 (GRCm39) splice site probably null
R8314:Fam135a UTSW 1 24,061,002 (GRCm39) missense possibly damaging 0.84
R8403:Fam135a UTSW 1 24,067,908 (GRCm39) missense probably benign 0.21
R8416:Fam135a UTSW 1 24,067,675 (GRCm39) missense probably benign 0.11
R8420:Fam135a UTSW 1 24,067,569 (GRCm39) missense probably benign 0.24
R8423:Fam135a UTSW 1 24,060,998 (GRCm39) missense probably damaging 0.99
R8745:Fam135a UTSW 1 24,067,569 (GRCm39) missense probably benign 0.24
R8754:Fam135a UTSW 1 24,067,569 (GRCm39) missense probably benign 0.24
R8994:Fam135a UTSW 1 24,067,621 (GRCm39) missense probably damaging 1.00
X0022:Fam135a UTSW 1 24,069,295 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCATCAGAAACATCTGTAGTGCTC -3'
(R):5'- TAAGCACTGAGGACCCTTTACG -3'

Sequencing Primer
(F):5'- GAAACATCTGTAGTGCTCTGAGATCC -3'
(R):5'- TGAGGACCCTTTACGGCTCG -3'
Posted On 2018-07-23