Incidental Mutation 'R7542:Fam53a'
ID 583939
Institutional Source Beutler Lab
Gene Symbol Fam53a
Ensembl Gene ENSMUSG00000037339
Gene Name family with sequence similarity 53, member A
Synonyms 5430419M09Rik, 2410018C17Rik, DNTNP
MMRRC Submission 045614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7542 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 33757691-33786979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33764815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 297 (M297T)
Ref Sequence ENSEMBL: ENSMUSP00000045539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045329] [ENSMUST00000065119] [ENSMUST00000065162] [ENSMUST00000137705] [ENSMUST00000150033] [ENSMUST00000153696] [ENSMUST00000155980]
AlphaFold E9PV82
Predicted Effect probably damaging
Transcript: ENSMUST00000045329
AA Change: M297T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: M297T

DomainStartEndE-ValueType
Pfam:FAM53 1 299 2.2e-113 PFAM
low complexity region 336 356 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065119
AA Change: M297T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: M297T

DomainStartEndE-ValueType
Pfam:FAM53 1 299 2.3e-112 PFAM
low complexity region 336 356 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000065162
AA Change: M297T

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339
AA Change: M297T

DomainStartEndE-ValueType
Pfam:FAM53 1 299 3.1e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137705
SMART Domains Protein: ENSMUSP00000121667
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 54 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150033
SMART Domains Protein: ENSMUSP00000117350
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 54 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153696
SMART Domains Protein: ENSMUSP00000118139
Gene: ENSMUSG00000037339

DomainStartEndE-ValueType
Pfam:FAM53 1 59 3.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155980
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,848 (GRCm39) T439S possibly damaging Het
Akap11 A T 14: 78,747,732 (GRCm39) S1552T Het
Akap6 A G 12: 53,116,017 (GRCm39) E1040G probably damaging Het
Alms1 A T 6: 85,606,344 (GRCm39) T2196S possibly damaging Het
Alox12e T C 11: 70,212,582 (GRCm39) Q89R possibly damaging Het
AW551984 T A 9: 39,505,927 (GRCm39) E423D possibly damaging Het
Ccpg1 T A 9: 72,919,741 (GRCm39) V452D probably damaging Het
Cdk5r1 T C 11: 80,369,190 (GRCm39) F286L probably damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Clgn A T 8: 84,122,174 (GRCm39) S32C possibly damaging Het
Csk C A 9: 57,536,283 (GRCm39) probably null Het
Dchs2 A G 3: 83,176,591 (GRCm39) T850A probably benign Het
Defb2 T C 8: 22,333,360 (GRCm39) V45A probably benign Het
Disp2 A G 2: 118,621,599 (GRCm39) Q777R probably damaging Het
Dll1 C T 17: 15,590,609 (GRCm39) C369Y probably damaging Het
Dnah7c A G 1: 46,823,658 (GRCm39) I3766V probably benign Het
Elapor1 A T 3: 108,365,543 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,504 (GRCm39) D3052G possibly damaging Het
Fat4 A T 3: 39,035,770 (GRCm39) I3141F possibly damaging Het
Fbxw10 T C 11: 62,741,422 (GRCm39) V180A probably benign Het
Frem2 A T 3: 53,560,000 (GRCm39) D1502E probably damaging Het
Fsip2 A T 2: 82,815,196 (GRCm39) N3643I possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Glb1l3 C A 9: 26,729,491 (GRCm39) A659S possibly damaging Het
Gm8011 A T 14: 42,288,741 (GRCm39) R175* probably null Het
Gna15 A G 10: 81,350,136 (GRCm39) S89P probably damaging Het
Grm2 A T 9: 106,528,368 (GRCm39) L172Q probably damaging Het
Iqcn A G 8: 71,161,415 (GRCm39) T203A possibly damaging Het
Kcnc3 A G 7: 44,245,138 (GRCm39) D476G possibly damaging Het
Kcnh6 A G 11: 105,905,387 (GRCm39) T216A possibly damaging Het
Kdm2a G A 19: 4,383,858 (GRCm39) probably benign Het
Lrrc9 T C 12: 72,553,094 (GRCm39) I1332T probably damaging Het
Maea T C 5: 33,529,007 (GRCm39) C317R probably damaging Het
Manba T C 3: 135,272,354 (GRCm39) V707A probably benign Het
Mcph1 C T 8: 18,681,705 (GRCm39) R281C probably benign Het
Med25 A T 7: 44,541,215 (GRCm39) D99E probably damaging Het
Megf10 C A 18: 57,322,642 (GRCm39) D62E probably benign Het
Minar1 T A 9: 89,483,964 (GRCm39) T478S probably damaging Het
Myod1 A T 7: 46,026,097 (GRCm39) M1L probably benign Het
Nav3 A T 10: 109,659,394 (GRCm39) M741K possibly damaging Het
Odf2l A C 3: 144,859,197 (GRCm39) K618T probably damaging Het
Or4c107 A T 2: 88,789,119 (GRCm39) E103V probably benign Het
Pcdha2 G A 18: 37,073,142 (GRCm39) G258R probably damaging Het
Pcdha3 G A 18: 37,080,784 (GRCm39) A509T possibly damaging Het
Pde4dip A G 3: 97,673,971 (GRCm39) V315A possibly damaging Het
Prim1 T C 10: 127,853,903 (GRCm39) V107A probably damaging Het
Pxdc1 A G 13: 34,822,146 (GRCm39) probably null Het
Rab7b C T 1: 131,639,379 (GRCm39) H182Y probably benign Het
Reln C A 5: 22,160,179 (GRCm39) G2130V probably damaging Het
Retreg1 T A 15: 25,941,296 (GRCm39) M1K probably null Het
Rras G A 7: 44,669,766 (GRCm39) R94Q probably damaging Het
Rundc3a T A 11: 102,290,871 (GRCm39) L318Q probably benign Het
Scgb2b18 A T 7: 32,872,747 (GRCm39) probably null Het
Setd1b A T 5: 123,286,510 (GRCm39) M519L unknown Het
Tep1 G A 14: 51,099,948 (GRCm39) Q426* probably null Het
Tesk1 G T 4: 43,445,941 (GRCm39) M291I probably benign Het
Tgs1 A G 4: 3,595,439 (GRCm39) D536G probably benign Het
Thbs1 C T 2: 117,951,655 (GRCm39) T825M probably damaging Het
Tmem59l T C 8: 70,937,814 (GRCm39) N189D possibly damaging Het
Trim30c A T 7: 104,031,425 (GRCm39) D463E possibly damaging Het
Trpc4 A G 3: 54,223,075 (GRCm39) Y706C probably damaging Het
Ttc13 A T 8: 125,401,842 (GRCm39) probably null Het
Tulp1 T C 17: 28,582,729 (GRCm39) K140E probably benign Het
Urb2 A G 8: 124,755,327 (GRCm39) I345V probably benign Het
Vmn2r43 T C 7: 8,258,488 (GRCm39) M242V probably benign Het
Zcwpw1 T C 5: 137,817,785 (GRCm39) V509A probably benign Het
Zfp202 T C 9: 40,122,443 (GRCm39) C402R probably benign Het
Other mutations in Fam53a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Fam53a APN 5 33,758,171 (GRCm39) missense probably benign 0.09
IGL02326:Fam53a APN 5 33,757,938 (GRCm39) missense probably damaging 1.00
IGL02939:Fam53a APN 5 33,765,103 (GRCm39) missense probably damaging 1.00
IGL02988:Fam53a UTSW 5 33,764,819 (GRCm39) missense probably damaging 1.00
R0054:Fam53a UTSW 5 33,765,076 (GRCm39) missense probably damaging 0.99
R0884:Fam53a UTSW 5 33,758,160 (GRCm39) missense probably benign 0.00
R4601:Fam53a UTSW 5 33,758,007 (GRCm39) missense probably benign 0.00
R4808:Fam53a UTSW 5 33,765,023 (GRCm39) missense probably damaging 1.00
R5311:Fam53a UTSW 5 33,765,080 (GRCm39) missense probably damaging 1.00
R6334:Fam53a UTSW 5 33,758,219 (GRCm39) missense probably damaging 1.00
R6525:Fam53a UTSW 5 33,765,262 (GRCm39) missense probably damaging 0.99
R6645:Fam53a UTSW 5 33,758,128 (GRCm39) missense probably benign
R6681:Fam53a UTSW 5 33,765,184 (GRCm39) missense probably damaging 1.00
R6814:Fam53a UTSW 5 33,767,829 (GRCm39) missense probably benign 0.35
R8745:Fam53a UTSW 5 33,767,781 (GRCm39) missense probably damaging 0.96
Z1177:Fam53a UTSW 5 33,765,161 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- AGTTGAGAAAGGCCATCCTCAC -3'
(R):5'- ACTGTCCCTCTCACAAGAGC -3'

Sequencing Primer
(F):5'- CCAACCCAAGCTACGCCATG -3'
(R):5'- CACCTTGTAGATACAGGTGCTTGC -3'
Posted On 2019-10-17