Incidental Mutation 'R5700:Fam53b'
ID 450848
Institutional Source Beutler Lab
Gene Symbol Fam53b
Ensembl Gene ENSMUSG00000030956
Gene Name family with sequence similarity 53, member B
Synonyms A930008G19Rik
MMRRC Submission 043328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5700 (G1)
Quality Score 224
Status Validated
Chromosome 7
Chromosomal Location 132313811-132415615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132361749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 93 (L93Q)
Ref Sequence ENSEMBL: ENSMUSP00000101775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065371] [ENSMUST00000097998] [ENSMUST00000097999] [ENSMUST00000106165] [ENSMUST00000106166] [ENSMUST00000106168] [ENSMUST00000106169] [ENSMUST00000124096] [ENSMUST00000134946]
AlphaFold Q8BGR5
Predicted Effect probably damaging
Transcript: ENSMUST00000065371
AA Change: L93Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070763
Gene: ENSMUSG00000030956
AA Change: L93Q

DomainStartEndE-ValueType
Pfam:FAM53 1 303 6.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097998
SMART Domains Protein: ENSMUSP00000095607
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 57 1.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097999
AA Change: L93Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095608
Gene: ENSMUSG00000030956
AA Change: L93Q

DomainStartEndE-ValueType
Pfam:FAM53 1 303 6.4e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106165
AA Change: L93Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101771
Gene: ENSMUSG00000030956
AA Change: L93Q

DomainStartEndE-ValueType
Pfam:FAM53 1 303 4.2e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106166
AA Change: L93Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101772
Gene: ENSMUSG00000030956
AA Change: L93Q

DomainStartEndE-ValueType
Pfam:FAM53 1 303 4.2e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106168
AA Change: L63Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101774
Gene: ENSMUSG00000030956
AA Change: L63Q

DomainStartEndE-ValueType
Pfam:FAM53 1 273 1.2e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106169
AA Change: L93Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101775
Gene: ENSMUSG00000030956
AA Change: L93Q

DomainStartEndE-ValueType
Pfam:FAM53 1 303 2.3e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134946
SMART Domains Protein: ENSMUSP00000118953
Gene: ENSMUSG00000030956

DomainStartEndE-ValueType
Pfam:FAM53 1 65 1e-18 PFAM
Meta Mutation Damage Score 0.7286 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,786,633 (GRCm39) Q155L probably benign Het
Acadvl A C 11: 69,904,029 (GRCm39) Y242D probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Barx2 A T 9: 31,770,061 (GRCm39) F156I probably damaging Het
Best1 T C 19: 9,974,563 (GRCm39) probably benign Het
Btbd8 T C 5: 107,651,514 (GRCm39) S136P possibly damaging Het
Btla T A 16: 45,070,936 (GRCm39) Y298* probably null Het
Casr T A 16: 36,329,979 (GRCm39) I452F probably damaging Het
Ccser1 C A 6: 61,288,260 (GRCm39) P141H probably benign Het
Cr2 A G 1: 194,842,065 (GRCm39) V296A probably damaging Het
Csl T A 10: 99,594,877 (GRCm39) I63F probably damaging Het
Dbt G A 3: 116,313,952 (GRCm39) V40M probably damaging Het
Fdps T C 3: 89,002,956 (GRCm39) I105V probably damaging Het
Gm4884 A G 7: 40,692,643 (GRCm39) D204G probably benign Het
Gm5592 A G 7: 40,808,003 (GRCm39) probably benign Het
Gm7367 A T 7: 59,805,510 (GRCm39) noncoding transcript Het
Grid2 T A 6: 64,071,416 (GRCm39) V413D possibly damaging Het
Hgf C T 5: 16,815,122 (GRCm39) P471L probably damaging Het
Hoxc9 T C 15: 102,890,313 (GRCm39) Y77H possibly damaging Het
Hs6st3 C T 14: 119,376,199 (GRCm39) R125* probably null Het
Kdm4b T C 17: 56,658,700 (GRCm39) I15T possibly damaging Het
Klhl1 T C 14: 96,755,476 (GRCm39) N93S probably benign Het
Klhl6 G A 16: 19,775,968 (GRCm39) Q197* probably null Het
Medag T C 5: 149,345,682 (GRCm39) V7A probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Nckap5 C T 1: 125,904,662 (GRCm39) probably null Het
Obscn T C 11: 59,024,020 (GRCm39) K550R probably benign Het
Or2d36 A G 7: 106,746,748 (GRCm39) N75S probably benign Het
Or2w1b T A 13: 21,300,171 (GRCm39) V103E probably damaging Het
Or5h25 T A 16: 58,930,356 (GRCm39) I206F probably damaging Het
Or7a42 T C 10: 78,791,318 (GRCm39) I93T probably damaging Het
Parp6 T C 9: 59,532,010 (GRCm39) S101P probably damaging Het
Plcd3 T C 11: 102,964,589 (GRCm39) N594S probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Ppp2r1b T C 9: 50,789,457 (GRCm39) Y443H probably damaging Het
Prnd G A 2: 131,795,263 (GRCm39) V128I probably benign Het
Rftn1 G T 17: 50,309,697 (GRCm39) P156Q probably damaging Het
Scmh1 T C 4: 120,374,143 (GRCm39) V445A probably benign Het
Serpinb6c A T 13: 34,083,291 (GRCm39) M41K probably damaging Het
Slc66a1 C T 4: 139,027,565 (GRCm39) S259N probably damaging Het
Spns1 A G 7: 125,971,641 (GRCm39) V303A possibly damaging Het
Ston1 T A 17: 88,951,767 (GRCm39) S639R probably damaging Het
Thbs4 T C 13: 92,913,461 (GRCm39) D153G probably benign Het
Timm44 T C 8: 4,324,171 (GRCm39) Y36C probably damaging Het
Trim34b G T 7: 103,985,618 (GRCm39) V418F probably damaging Het
Vmn1r72 C T 7: 11,404,350 (GRCm39) V33M probably damaging Het
Zcchc7 T C 4: 44,931,084 (GRCm39) V412A probably benign Het
Zfand1 T A 3: 10,406,079 (GRCm39) N210I probably damaging Het
Zfhx3 A G 8: 109,660,499 (GRCm39) H1251R probably damaging Het
Other mutations in Fam53b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Fam53b APN 7 132,317,511 (GRCm39) missense probably damaging 0.99
PIT4402001:Fam53b UTSW 7 132,361,746 (GRCm39) missense probably damaging 1.00
R1923:Fam53b UTSW 7 132,317,521 (GRCm39) missense probably damaging 0.98
R3712:Fam53b UTSW 7 132,361,654 (GRCm39) missense probably damaging 1.00
R5000:Fam53b UTSW 7 132,317,730 (GRCm39) missense probably benign 0.43
R5102:Fam53b UTSW 7 132,317,684 (GRCm39) nonsense probably null
R5122:Fam53b UTSW 7 132,380,991 (GRCm39) start gained probably benign
R5810:Fam53b UTSW 7 132,361,893 (GRCm39) missense probably damaging 1.00
R6186:Fam53b UTSW 7 132,317,445 (GRCm39) missense possibly damaging 0.55
R7075:Fam53b UTSW 7 132,361,352 (GRCm39) missense probably damaging 0.98
R7125:Fam53b UTSW 7 132,373,357 (GRCm39) missense probably damaging 1.00
R7286:Fam53b UTSW 7 132,361,390 (GRCm39) missense possibly damaging 0.96
R8141:Fam53b UTSW 7 132,361,758 (GRCm39) missense probably damaging 1.00
R9502:Fam53b UTSW 7 132,361,740 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGGGAAGGAAAACTGCTCATGC -3'
(R):5'- TTGTGAAGGCCTCTCAGATCC -3'

Sequencing Primer
(F):5'- TGACGCCATTGGAGTAGC -3'
(R):5'- GTGAAGGCCTCTCAGATCCTATTTTC -3'
Posted On 2017-01-03