Incidental Mutation 'R1759:Snrnp40'
ID 195168
Institutional Source Beutler Lab
Gene Symbol Snrnp40
Ensembl Gene ENSMUSG00000074088
Gene Name small nuclear ribonucleoprotein 40 (U5)
Synonyms Wdr57, 0610009C03Rik
MMRRC Submission 039791-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1759 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 130253925-130283819 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 130271836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105994]
AlphaFold Q6PE01
Predicted Effect probably null
Transcript: ENSMUST00000105994
SMART Domains Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
WD40 56 95 1.64e-9 SMART
WD40 99 138 1.83e-7 SMART
WD40 141 181 8.68e-9 SMART
WD40 184 222 3.81e-5 SMART
WD40 225 264 3.24e-8 SMART
WD40 271 314 5.1e-6 SMART
WD40 317 356 2.84e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180577
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,272 (GRCm39) M53L possibly damaging Het
Abca5 T C 11: 110,184,674 (GRCm39) D944G probably benign Het
Ankdd1b T C 13: 96,556,211 (GRCm39) Y433C probably damaging Het
Aox3 A G 1: 58,209,805 (GRCm39) probably null Het
Ap1g1 G A 8: 110,559,853 (GRCm39) G260E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a4 T A 16: 29,275,429 (GRCm39) T352S probably damaging Het
Ccdc33 T A 9: 58,024,729 (GRCm39) N166Y possibly damaging Het
Ces2h T A 8: 105,743,243 (GRCm39) D159E probably damaging Het
Chd1 T A 17: 17,607,533 (GRCm39) D360E probably benign Het
Col16a1 G T 4: 129,978,062 (GRCm39) G781V probably damaging Het
Col6a5 T A 9: 105,808,045 (GRCm39) E1001V unknown Het
Cracdl A T 1: 37,664,791 (GRCm39) I369N probably benign Het
Cyp3a59 T G 5: 146,035,060 (GRCm39) M246R probably benign Het
Dcn T C 10: 97,349,517 (GRCm39) V263A probably benign Het
Dnttip2 A G 3: 122,069,798 (GRCm39) N338D probably benign Het
Entpd1 G T 19: 40,600,968 (GRCm39) probably null Het
Epb41l1 A G 2: 156,363,894 (GRCm39) D801G probably benign Het
Fam186a T A 15: 99,864,762 (GRCm39) K23* probably null Het
Gbe1 T C 16: 70,284,929 (GRCm39) M417T probably benign Het
Gmnc T A 16: 26,784,497 (GRCm39) S3C possibly damaging Het
Gpr156 T C 16: 37,768,583 (GRCm39) S35P probably damaging Het
Grid1 T C 14: 35,167,988 (GRCm39) M504T possibly damaging Het
Gsdma3 T C 11: 98,526,071 (GRCm39) V265A possibly damaging Het
Hsd3b3 A T 3: 98,649,399 (GRCm39) I308N probably damaging Het
Inpp4b A G 8: 82,494,732 (GRCm39) D49G probably benign Het
Ipmk C A 10: 71,217,133 (GRCm39) Q227K probably damaging Het
Kalrn T A 16: 34,181,320 (GRCm39) D88V probably damaging Het
Kansl1l C T 1: 66,841,047 (GRCm39) M84I probably damaging Het
Kcnab2 T G 4: 152,477,509 (GRCm39) K363Q probably damaging Het
Kdm7a C A 6: 39,124,633 (GRCm39) probably null Het
Kiss1r T C 10: 79,757,612 (GRCm39) L322P probably damaging Het
Lce1e A T 3: 92,615,178 (GRCm39) C56* probably null Het
Lrpprc T C 17: 85,047,509 (GRCm39) K908E probably damaging Het
Mak C A 13: 41,210,110 (GRCm39) W42L probably damaging Het
Map3k21 A G 8: 126,671,519 (GRCm39) T936A probably benign Het
Marchf7 C T 2: 60,064,888 (GRCm39) S388F probably damaging Het
Matcap1 A T 8: 106,012,182 (GRCm39) S88R probably damaging Het
Mgat2 A T 12: 69,232,301 (GRCm39) I292F probably benign Het
Myh3 C A 11: 66,987,717 (GRCm39) R1397S probably damaging Het
Myo5a A G 9: 75,089,275 (GRCm39) D1135G possibly damaging Het
N4bp2 A G 5: 65,983,956 (GRCm39) E1667G probably damaging Het
Nbr1 A G 11: 101,450,369 (GRCm39) T43A probably damaging Het
Nip7 A G 8: 107,784,767 (GRCm39) N124S probably benign Het
Or3a1 G A 11: 74,225,808 (GRCm39) S83F possibly damaging Het
Or51l14 T C 7: 103,101,356 (GRCm39) S271P probably benign Het
Or6c75 T A 10: 129,336,775 (GRCm39) S7R probably benign Het
Or7g25 C T 9: 19,160,384 (GRCm39) V104I probably benign Het
Or8b55 T C 9: 38,727,194 (GRCm39) Y132H probably damaging Het
Otoa T C 7: 120,733,326 (GRCm39) L731P probably damaging Het
Pcnx2 G A 8: 126,500,717 (GRCm39) P1458S probably damaging Het
Pfpl A G 19: 12,407,224 (GRCm39) T492A probably damaging Het
Pgm1 A G 4: 99,824,305 (GRCm39) D326G probably damaging Het
Plekhh1 T A 12: 79,119,535 (GRCm39) Y953N probably damaging Het
Pnkd G A 1: 74,387,922 (GRCm39) A195T probably damaging Het
Ppib C T 9: 65,968,764 (GRCm39) Q51* probably null Het
Ppip5k1 G T 2: 121,181,067 (GRCm39) T13K probably benign Het
Psmg2 A T 18: 67,781,246 (GRCm39) S113C probably benign Het
Rapgef2 A G 3: 78,974,038 (GRCm39) M1584T possibly damaging Het
Rbm12b1 A C 4: 12,145,424 (GRCm39) R465S probably damaging Het
Reln A G 5: 22,215,287 (GRCm39) Y1055H probably damaging Het
Ros1 A T 10: 51,996,922 (GRCm39) I1250K probably damaging Het
Samd9l C A 6: 3,373,401 (GRCm39) V1287F probably damaging Het
Sgce A T 6: 4,689,765 (GRCm39) I356N probably damaging Het
Sh3tc1 C T 5: 35,863,248 (GRCm39) E980K possibly damaging Het
Sil1 T C 18: 35,551,151 (GRCm39) E68G possibly damaging Het
Slc18a1 A G 8: 69,518,237 (GRCm39) I259T possibly damaging Het
Slc6a20b A C 9: 123,438,062 (GRCm39) probably null Het
Smg7 G T 1: 152,724,597 (GRCm39) T536K probably benign Het
Smyd4 A G 11: 75,273,192 (GRCm39) Y84C probably damaging Het
Sorbs2 A T 8: 46,216,056 (GRCm39) *50C probably null Het
Speg A T 1: 75,377,806 (GRCm39) M855L possibly damaging Het
Srrt G T 5: 137,301,212 (GRCm39) H71Q probably damaging Het
St6galnac5 A G 3: 152,552,130 (GRCm39) S146P probably damaging Het
Syne1 T A 10: 5,299,369 (GRCm39) Q962L probably damaging Het
Tiam2 A G 17: 3,566,278 (GRCm39) H1441R probably damaging Het
Tmem45a C T 16: 56,642,765 (GRCm39) M135I probably benign Het
Tpr A T 1: 150,305,275 (GRCm39) E1521D probably benign Het
Uba3 C T 6: 97,173,865 (GRCm39) G107R probably damaging Het
Unc45b G T 11: 82,820,325 (GRCm39) V590F probably benign Het
Vmn1r14 A T 6: 57,211,297 (GRCm39) T292S probably benign Het
Vmn2r102 T A 17: 19,914,755 (GRCm39) N773K probably damaging Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Wfs1 G C 5: 37,124,359 (GRCm39) A844G probably damaging Het
Zfp398 A G 6: 47,836,412 (GRCm39) T71A possibly damaging Het
Zfp507 C A 7: 35,475,403 (GRCm39) A145S probably damaging Het
Zfp971 A T 2: 177,675,722 (GRCm39) E440D probably damaging Het
Other mutations in Snrnp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02200:Snrnp40 APN 4 130,254,014 (GRCm39) missense probably damaging 0.99
IGL02306:Snrnp40 APN 4 130,258,893 (GRCm39) missense probably benign 0.21
skywarp UTSW 4 130,271,836 (GRCm39) splice site probably null
R0027:Snrnp40 UTSW 4 130,262,066 (GRCm39) missense probably damaging 1.00
R0027:Snrnp40 UTSW 4 130,262,066 (GRCm39) missense probably damaging 1.00
R0077:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0134:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0211:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0349:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0371:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0372:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0376:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0377:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0400:Snrnp40 UTSW 4 130,256,443 (GRCm39) missense probably damaging 1.00
R0442:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0443:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0486:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0488:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0568:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0624:Snrnp40 UTSW 4 130,256,451 (GRCm39) missense probably damaging 0.98
R0632:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0650:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R0733:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1161:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1182:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1234:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1236:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1305:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1308:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1333:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1413:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1569:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1616:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1656:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1675:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1856:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1901:Snrnp40 UTSW 4 130,279,768 (GRCm39) missense probably damaging 0.98
R1912:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1930:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R1931:Snrnp40 UTSW 4 130,271,836 (GRCm39) splice site probably null
R2435:Snrnp40 UTSW 4 130,278,344 (GRCm39) missense probably damaging 1.00
R3722:Snrnp40 UTSW 4 130,262,068 (GRCm39) missense possibly damaging 0.76
R4782:Snrnp40 UTSW 4 130,256,549 (GRCm39) missense probably damaging 1.00
R4799:Snrnp40 UTSW 4 130,256,549 (GRCm39) missense probably damaging 1.00
R5075:Snrnp40 UTSW 4 130,282,375 (GRCm39) missense probably benign 0.07
R5104:Snrnp40 UTSW 4 130,258,958 (GRCm39) missense possibly damaging 0.78
R5369:Snrnp40 UTSW 4 130,256,439 (GRCm39) missense probably damaging 0.97
R5699:Snrnp40 UTSW 4 130,258,958 (GRCm39) missense possibly damaging 0.78
R7529:Snrnp40 UTSW 4 130,278,275 (GRCm39) missense possibly damaging 0.94
R8264:Snrnp40 UTSW 4 130,271,867 (GRCm39) missense probably benign 0.00
R8412:Snrnp40 UTSW 4 130,278,316 (GRCm39) missense possibly damaging 0.49
R9319:Snrnp40 UTSW 4 130,256,545 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- CTAAGTGGGTGCAGGGAATCATA -3'
(R):5'- TAATCTGATCGCTCGTGTCATTG -3'

Sequencing Primer
(F):5'- ATACGTGGGTGCTCTGGAAG -3'
(R):5'- TTGAAGGTCACAGCCAACAC -3'
Posted On 2014-05-23