Incidental Mutation 'R6793:Fam135a'
ID 532674
Institutional Source Beutler Lab
Gene Symbol Fam135a
Ensembl Gene ENSMUSG00000026153
Gene Name family with sequence similarity 135, member A
Synonyms 4921533L14Rik
MMRRC Submission 044906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R6793 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 24050174-24139422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24107006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000140766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]
AlphaFold Q6NS59
Predicted Effect possibly damaging
Transcript: ENSMUST00000027337
AA Change: V44A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: V44A

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 possibly damaging
Transcript: ENSMUST00000186999
AA Change: V44A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: V44A

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: V44A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: V44A

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: ENSMUST00000187752
SMART Domains Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153

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 possibly damaging
Transcript: ENSMUST00000188712
AA Change: V44A

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,052 (GRCm39) N19K possibly damaging Het
A2ml1 G A 6: 128,523,292 (GRCm39) Q1215* probably null Het
Abraxas2 T C 7: 132,476,563 (GRCm39) I98T probably damaging Het
Ankrd17 G A 5: 90,413,371 (GRCm39) T1181I probably damaging Het
Bsn T A 9: 107,991,814 (GRCm39) K1313* probably null Het
Chst4 A T 8: 110,756,699 (GRCm39) V388D probably damaging Het
Ckap5 T G 2: 91,399,054 (GRCm39) W613G probably damaging Het
Clock GACTCACT GACT 5: 76,384,967 (GRCm39) probably null Het
Enpp1 T C 10: 24,531,723 (GRCm39) D520G probably damaging Het
Epha3 T C 16: 63,593,818 (GRCm39) N90S probably benign Het
Esp36 A T 17: 38,728,005 (GRCm39) M92K unknown Het
Fndc8 T C 11: 82,788,412 (GRCm39) S81P probably damaging Het
Fsip2 T G 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gabrr1 T G 4: 33,162,712 (GRCm39) V426G possibly damaging Het
Igkv6-15 T A 6: 70,383,976 (GRCm39) M1L probably benign Het
Lrrc36 A G 8: 106,185,065 (GRCm39) E614G probably damaging Het
Man1a2 A T 3: 100,539,913 (GRCm39) I176K possibly damaging Het
Mapk4 T A 18: 74,063,539 (GRCm39) N561I probably damaging Het
Med15 A T 16: 17,470,567 (GRCm39) probably benign Het
Mfsd2a A G 4: 122,844,498 (GRCm39) V258A probably benign Het
Micu3 G A 8: 40,833,736 (GRCm39) V457I probably damaging Het
Mov10l1 T A 15: 88,880,387 (GRCm39) V291E possibly damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncbp1 T C 4: 46,157,827 (GRCm39) I355T probably damaging Het
Or51s1 A G 7: 102,558,935 (GRCm39) V37A probably benign Het
Or52ad1 T C 7: 102,995,473 (GRCm39) T221A probably benign Het
Otub2 A G 12: 103,355,278 (GRCm39) probably benign Het
Pcdh15 T C 10: 74,466,971 (GRCm39) S1666P probably damaging Het
Pcdha12 T A 18: 37,155,234 (GRCm39) V651E probably damaging Het
Pomt1 T C 2: 32,132,961 (GRCm39) F186L probably damaging Het
Prl3d3 G A 13: 27,345,044 (GRCm39) A140T probably benign Het
Ptprn G A 1: 75,234,786 (GRCm39) T267I probably benign Het
Qrfprl C T 6: 65,358,405 (GRCm39) A43V probably benign Het
Rhbdd2 T A 5: 135,665,008 (GRCm39) I113N probably damaging Het
Saraf T A 8: 34,635,767 (GRCm39) probably null Het
Slc41a2 T C 10: 83,137,022 (GRCm39) probably null Het
Slc47a1 A G 11: 61,250,229 (GRCm39) V352A probably benign Het
Tmem237 T C 1: 59,153,375 (GRCm39) T49A probably benign Het
Tmem273 A C 14: 32,528,778 (GRCm39) I48L probably benign Het
Tmprss11e C T 5: 86,863,414 (GRCm39) C217Y probably damaging Het
Ubfd1 T C 7: 121,667,103 (GRCm39) V140A probably benign Het
Utrn A G 10: 12,516,669 (GRCm39) probably null Het
Utrn T A 10: 12,574,844 (GRCm39) I1028F possibly damaging Het
Virma C T 4: 11,539,968 (GRCm39) T1479M probably damaging Het
Vwa7 G T 17: 35,243,867 (GRCm39) R767L probably benign Het
Wdfy3 A T 5: 102,065,297 (GRCm39) Y1290* probably null Het
Zfp970 G A 2: 177,167,338 (GRCm39) C304Y 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
R6668:Fam135a UTSW 1 24,067,929 (GRCm39) missense probably damaging 0.99
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'- CCAAATTAAGCCCGTTTGACTG -3'
(R):5'- GTTCTTCTGTACATGTGCCAAATC -3'

Sequencing Primer
(F):5'- CCCGTTTGACTGATTTCTTAAAAGGG -3'
(R):5'- GTACATGTGCCAAATCTCTCTCTTGG -3'
Posted On 2018-08-29