Incidental Mutation 'R5226:Snrnp48'
ID402630
Institutional Source Beutler Lab
Gene Symbol Snrnp48
Ensembl Gene ENSMUSG00000021431
Gene Namesmall nuclear ribonucleoprotein 48 (U11/U12)
Synonyms6530403A03Rik, 1110050F08Rik
MMRRC Submission 042799-MU
Accession Numbers

Ncbi RefSeq: NM_026382.2; MGI:1915047

Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #R5226 (G1)
Quality Score154
Status Validated
Chromosome13
Chromosomal Location38204938-38227665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 38205117 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 49 (A49T)
Ref Sequence ENSEMBL: ENSMUSP00000136202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091641] [ENSMUST00000178564]
Predicted Effect probably benign
Transcript: ENSMUST00000091641
AA Change: A49T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431
AA Change: A49T

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:zf-U11-48K 55 79 9.9e-13 PFAM
low complexity region 292 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178564
AA Change: A49T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136202
Gene: ENSMUSG00000021431
AA Change: A49T

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:zf-U11-48K 54 80 3.4e-14 PFAM
low complexity region 229 263 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223814
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (66/66)
Allele List at MGI

All alleles(7) : Targeted(1) Gene trapped(6)

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,294,076 K98E possibly damaging Het
4933414I15Rik A T 11: 50,942,589 M62K unknown Het
Akr1d1 T A 6: 37,536,014 probably null Het
Ankrd63 T C 2: 118,703,255 probably benign Het
Atad5 T C 11: 80,095,062 V325A probably damaging Het
Atp13a5 G T 16: 29,248,279 N1025K probably damaging Het
Atrnl1 G T 19: 57,650,335 V302L probably benign Het
Bend7 C A 2: 4,752,978 S277* probably null Het
Btnl7-ps A T 17: 34,533,287 noncoding transcript Het
Cbx4 T C 11: 119,081,928 Y207C probably damaging Het
Ctla2b C T 13: 60,896,332 W63* probably null Het
Cux1 T C 5: 136,370,173 T170A probably benign Het
Cyp3a57 T C 5: 145,365,697 V101A probably benign Het
Dao A T 5: 114,021,033 T267S probably benign Het
Dsp A G 13: 38,186,770 D883G probably damaging Het
Eif4g3 C A 4: 138,096,794 P36T possibly damaging Het
Elf3 G A 1: 135,257,239 L70F probably benign Het
Epb41l4a C T 18: 33,810,313 D510N probably damaging Het
Gcn1l1 T C 5: 115,588,067 S594P probably benign Het
Gm10722 T C 9: 3,000,937 C6R probably benign Het
Gpr132 T C 12: 112,852,148 T353A probably benign Het
Kntc1 A G 5: 123,794,172 D1343G probably benign Het
L3mbtl4 T A 17: 68,764,722 probably null Het
Lrit2 A G 14: 37,072,353 E458G probably damaging Het
Man1c1 A T 4: 134,578,369 I348N probably damaging Het
Map4k2 A G 19: 6,346,504 probably benign Het
Nt5c2 A C 19: 46,898,629 Y203D probably damaging Het
Oxgr1 A G 14: 120,022,253 S181P probably damaging Het
Parn A G 16: 13,625,552 C400R probably benign Het
Pcdhgb7 T C 18: 37,752,524 V249A probably benign Het
Pdzrn3 C T 6: 101,153,311 D515N probably damaging Het
Plcg2 A T 8: 117,577,874 I273F possibly damaging Het
Plin1 A G 7: 79,722,699 V64A probably damaging Het
Ppfia4 C A 1: 134,304,286 probably null Het
Prkg2 A C 5: 98,976,462 D376E possibly damaging Het
Ptgir T A 7: 16,908,720 I82N probably damaging Het
Pum2 C T 12: 8,713,458 P205L possibly damaging Het
Rab26 T A 17: 24,534,133 probably benign Het
Recql4 T C 15: 76,710,129 E63G probably benign Het
Rora T A 9: 69,364,141 probably benign Het
Rp1 A C 1: 4,348,033 M952R probably benign Het
Rpap3 T A 15: 97,703,223 R44S possibly damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Slc12a2 C A 18: 57,879,020 P72T probably damaging Het
Slc1a3 C T 15: 8,642,225 V416M probably damaging Het
Slfn4 A T 11: 83,187,549 M388L possibly damaging Het
Tctex1d4 A G 4: 117,128,093 T38A possibly damaging Het
Tlx2 C T 6: 83,068,930 G228D possibly damaging Het
Tmem132a A G 19: 10,867,144 V30A possibly damaging Het
Tnfrsf23 C A 7: 143,685,785 L24F possibly damaging Het
Ubr2 A T 17: 46,983,270 N312K probably benign Het
Vmn1r115 C T 7: 20,844,244 V248I probably damaging Het
Vmn2r80 A G 10: 79,194,040 T567A probably benign Het
Vps13c A G 9: 67,945,553 T2372A probably benign Het
Wnt10b G T 15: 98,776,614 H81N probably damaging Het
Zfp948 A G 17: 21,588,243 T566A probably benign Het
Other mutations in Snrnp48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Snrnp48 APN 13 38220764 missense probably damaging 0.99
IGL02080:Snrnp48 APN 13 38216490 missense probably damaging 1.00
IGL02635:Snrnp48 APN 13 38209869 splice site probably benign
R0057:Snrnp48 UTSW 13 38216380 nonsense probably null
R1460:Snrnp48 UTSW 13 38211105 missense probably benign 0.02
R1542:Snrnp48 UTSW 13 38220704 missense probably damaging 1.00
R1789:Snrnp48 UTSW 13 38221360 missense possibly damaging 0.85
R2026:Snrnp48 UTSW 13 38209886 missense possibly damaging 0.46
R3419:Snrnp48 UTSW 13 38221359 missense possibly damaging 0.85
R3892:Snrnp48 UTSW 13 38217389 missense possibly damaging 0.93
R4485:Snrnp48 UTSW 13 38216328 missense probably benign 0.02
R4739:Snrnp48 UTSW 13 38209917 missense probably damaging 1.00
R4790:Snrnp48 UTSW 13 38221323 missense probably damaging 1.00
R5364:Snrnp48 UTSW 13 38210189 intron probably null
R6124:Snrnp48 UTSW 13 38216463 missense possibly damaging 0.48
R6158:Snrnp48 UTSW 13 38210236 nonsense probably null
R7194:Snrnp48 UTSW 13 38209899 missense probably damaging 1.00
R7610:Snrnp48 UTSW 13 38209961 missense probably damaging 1.00
R7749:Snrnp48 UTSW 13 38221287 missense probably benign 0.00
R7844:Snrnp48 UTSW 13 38209989 missense probably null 1.00
R7927:Snrnp48 UTSW 13 38209989 missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TTCAAAACTACCGCTTCCGC -3'
(R):5'- TCATGACGAAGCAAATCGCC -3'

Sequencing Primer
(F):5'- AGCAGTTCCGCCTCTTCCTG -3'
(R):5'- TCGCCAACCTCAGCAGCAG -3'
Posted On2016-07-22