Incidental Mutation 'R7286:Fam53b'
ID566005
Institutional Source Beutler Lab
Gene Symbol Fam53b
Ensembl Gene ENSMUSG00000030956
Gene Namefamily with sequence similarity 53, member B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7286 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location132712082-132813886 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132759661 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 213 (S213C)
Ref Sequence ENSEMBL: ENSMUSP00000070763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065371] [ENSMUST00000097998] [ENSMUST00000097999] [ENSMUST00000106165] [ENSMUST00000106166] [ENSMUST00000106168] [ENSMUST00000106169] [ENSMUST00000124096] [ENSMUST00000134946]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065371
AA Change: S213C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070763
Gene: ENSMUSG00000030956
AA Change: S213C

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 possibly damaging
Transcript: ENSMUST00000097999
AA Change: S213C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095608
Gene: ENSMUSG00000030956
AA Change: S213C

DomainStartEndE-ValueType
Pfam:FAM53 1 303 6.4e-121 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106165
AA Change: S213C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101771
Gene: ENSMUSG00000030956
AA Change: S213C

DomainStartEndE-ValueType
Pfam:FAM53 1 303 4.2e-121 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106166
AA Change: S213C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101772
Gene: ENSMUSG00000030956
AA Change: S213C

DomainStartEndE-ValueType
Pfam:FAM53 1 303 4.2e-121 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106168
AA Change: S183C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101774
Gene: ENSMUSG00000030956
AA Change: S183C

DomainStartEndE-ValueType
Pfam:FAM53 1 273 1.2e-112 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106169
AA Change: S213C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101775
Gene: ENSMUSG00000030956
AA Change: S213C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,622,479 C130S probably benign Het
4921501E09Rik T C 17: 33,065,527 D767G probably benign Het
4930550C14Rik A T 9: 53,423,017 M187L possibly damaging Het
9930012K11Rik T C 14: 70,157,237 E156G possibly damaging Het
Acad9 C T 3: 36,075,990 A194V probably damaging Het
Agps T A 2: 75,852,784 V151E probably benign Het
Ak9 A T 10: 41,407,371 I1273L Het
Akr1c19 T A 13: 4,246,819 L288Q probably damaging Het
Carmil1 T G 13: 24,013,394 D1353A probably damaging Het
Ccz1 T A 5: 144,013,079 I43F probably damaging Het
Cep70 G A 9: 99,275,585 C179Y probably damaging Het
Comt A T 16: 18,410,690 L196H probably damaging Het
Cspg5 A T 9: 110,246,955 D253V probably damaging Het
Dars2 A G 1: 161,046,808 V437A possibly damaging Het
Dcaf5 A G 12: 80,348,390 I335T probably damaging Het
Ddn T C 15: 98,806,025 K462R possibly damaging Het
Dscaml1 T C 9: 45,742,746 probably null Het
Ethe1 A G 7: 24,607,952 Y197C probably damaging Het
Evc A T 5: 37,322,183 L269* probably null Het
Fam161a T C 11: 23,020,001 S60P possibly damaging Het
Fam20b A G 1: 156,681,442 V400A probably benign Het
Flot2 A G 11: 78,054,786 I45V probably benign Het
Gemin4 A C 11: 76,212,753 L394R probably damaging Het
Glis2 T G 16: 4,611,318 S128R possibly damaging Het
Gm3696 A G 14: 7,089,808 Y92H probably damaging Het
Gm49333 T C 16: 20,632,591 S325P probably benign Het
Gpbp1l1 T C 4: 116,590,245 V374A probably benign Het
Grm1 T C 10: 10,689,696 N956S probably benign Het
Hbb-bh1 T C 7: 103,843,031 E27G probably damaging Het
Hmcn1 A T 1: 150,582,337 C5233S probably damaging Het
Hmgcr C T 13: 96,666,597 C30Y probably damaging Het
Hoxb6 A G 11: 96,292,825 probably benign Het
Igf2 T C 7: 142,655,818 Q35R possibly damaging Het
Ighv1-4 C T 12: 114,487,321 V56I probably benign Het
Kif13a C T 13: 46,752,455 V671M possibly damaging Het
Lmtk2 C T 5: 144,174,360 Q633* probably null Het
Mesd T C 7: 83,895,749 Y136H probably damaging Het
Mga T A 2: 119,964,788 S2984R possibly damaging Het
Mkrn3 T C 7: 62,418,927 N372S probably benign Het
Mtpap A G 18: 4,387,068 I373V probably benign Het
Mycbp2 G A 14: 103,120,591 T4589M probably damaging Het
Myh2 A G 11: 67,188,369 Q921R probably benign Het
Myom1 A G 17: 71,045,549 D324G possibly damaging Het
Nat10 T C 2: 103,754,169 K88E probably benign Het
Ncapd3 A G 9: 27,069,958 R915G probably damaging Het
Nek4 T C 14: 30,957,292 Y190H probably damaging Het
Nfasc A C 1: 132,602,052 Y797D probably damaging Het
Ngp A G 9: 110,420,910 D92G probably benign Het
Nos2 A C 11: 78,929,854 H95P probably damaging Het
Nr3c1 ACGTC ACGTCGTC 18: 39,486,460 probably benign Het
Olfr1129 C T 2: 87,575,519 T145I probably benign Het
Olfr1350 C A 7: 6,570,716 H242N probably damaging Het
Olfr141 A T 2: 86,806,623 H125Q possibly damaging Het
Olfr498 T C 7: 108,465,435 I37T possibly damaging Het
Otogl T A 10: 107,770,610 D2154V probably benign Het
Pdss1 T A 2: 22,935,641 probably null Het
Pex5 A T 6: 124,398,063 L609* probably null Het
Pglyrp4 C A 3: 90,732,974 A177D probably damaging Het
Phactr4 A G 4: 132,377,178 probably null Het
Pik3cd G C 4: 149,659,714 N193K probably benign Het
Prr36 TACCTCTTC T 8: 4,215,163 probably benign Het
Prss38 A T 11: 59,375,558 W25R probably benign Het
Prss8 T A 7: 127,926,884 Q189L probably damaging Het
Psd T A 19: 46,314,801 D713V probably damaging Het
Rad51ap2 C T 12: 11,457,691 T538I probably benign Het
Rarres1 T C 3: 67,515,184 T78A probably benign Het
Rbl2 G T 8: 91,102,294 G651* probably null Het
Rev3l A T 10: 39,823,605 Q1366L probably damaging Het
Rundc1 T C 11: 101,429,587 S215P probably benign Het
Scarf2 G A 16: 17,802,973 W168* probably null Het
Sh2d7 A G 9: 54,540,902 D69G possibly damaging Het
Slc26a4 A T 12: 31,529,528 Y578* probably null Het
Slc2a9 A T 5: 38,453,195 L87Q probably damaging Het
Slc39a10 A T 1: 46,810,070 H795Q probably damaging Het
Spata13 C T 14: 60,756,422 R1108W probably damaging Het
Sqle T C 15: 59,316,052 S70P probably benign Het
Syncrip A T 9: 88,464,663 F263I probably damaging Het
Synj2 T C 17: 6,037,945 S1424P possibly damaging Het
Tax1bp3 A T 11: 73,181,115 T89S possibly damaging Het
Tcaim G A 9: 122,819,027 probably null Het
Tcp10c T C 17: 13,362,176 I240T possibly damaging Het
Ttll8 G T 15: 88,917,239 N415K probably benign Het
Ugcg T C 4: 59,217,111 S212P possibly damaging Het
Vmn2r32 T C 7: 7,479,808 K56E probably benign Het
Vmn2r55 T C 7: 12,652,073 E660G probably damaging Het
Vmn2r7 T C 3: 64,690,880 N752S probably benign Het
Vps54 T A 11: 21,275,005 M167K probably benign Het
Vwa2 A C 19: 56,909,359 M699L probably benign Het
Wdr59 A G 8: 111,465,862 V689A Het
Whamm T G 7: 81,586,247 N399K probably damaging Het
Zcchc6 T C 13: 59,821,649 E144G probably benign Het
Zfp760 A G 17: 21,722,779 K312E probably benign Het
Zkscan3 C A 13: 21,394,813 V171L probably benign Het
Other mutations in Fam53b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Fam53b APN 7 132715782 missense probably damaging 0.99
PIT4402001:Fam53b UTSW 7 132760017 missense probably damaging 1.00
R1923:Fam53b UTSW 7 132715792 missense probably damaging 0.98
R3712:Fam53b UTSW 7 132759925 missense probably damaging 1.00
R5000:Fam53b UTSW 7 132716001 missense probably benign 0.43
R5102:Fam53b UTSW 7 132715955 nonsense probably null
R5122:Fam53b UTSW 7 132779262 start gained probably benign
R5700:Fam53b UTSW 7 132760020 missense probably damaging 1.00
R5810:Fam53b UTSW 7 132760164 missense probably damaging 1.00
R6186:Fam53b UTSW 7 132715716 missense possibly damaging 0.55
R7075:Fam53b UTSW 7 132759623 missense probably damaging 0.98
R7125:Fam53b UTSW 7 132771628 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATTAAGGACACAGGGCTG -3'
(R):5'- GATGAGATGTCCAGTTGCCG -3'

Sequencing Primer
(F):5'- TTAAGGACACAGGGCTGAGAGC -3'
(R):5'- AAAGTCTGGACTCCCGTGG -3'
Posted On2019-06-26