Incidental Mutation 'R4414:1110017D15Rik'
ID 328055
Institutional Source Beutler Lab
Gene Symbol 1110017D15Rik
Ensembl Gene ENSMUSG00000028441
Gene Name RIKEN cDNA 1110017D15 gene
Synonyms Smrp1, Cbe1
MMRRC Submission 041694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4414 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41505574 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 183 (T183A)
Ref Sequence ENSEMBL: ENSMUSP00000092744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]
AlphaFold Q2MH31
Predicted Effect silent
Transcript: ENSMUST00000030152
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054920
SMART Domains Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312

transmembrane domain 56 78 N/A INTRINSIC
Pfam:Glyco_hydro_31 311 712 9.7e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000095126
AA Change: T183A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: T183A

Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124019
Predicted Effect unknown
Transcript: ENSMUST00000125303
AA Change: N179S
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: N179S

Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138217
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T A 14: 44,169,233 (GRCm38) M120L probably benign Het
Aco2 A G 15: 81,889,383 (GRCm38) probably null Het
Acss1 A G 2: 150,659,903 (GRCm38) S115P possibly damaging Het
Ank2 A T 3: 127,225,762 (GRCm38) probably null Het
AU041133 C T 10: 82,151,482 (GRCm38) T323M probably damaging Het
Bdp1 T C 13: 100,030,861 (GRCm38) D2215G probably damaging Het
Bod1l G A 5: 41,820,527 (GRCm38) T1148I probably benign Het
Celsr1 C T 15: 85,963,133 (GRCm38) V1468I probably benign Het
Celsr1 A G 15: 85,927,999 (GRCm38) V2065A probably damaging Het
Cep89 A G 7: 35,416,397 (GRCm38) probably benign Het
Cfap58 A G 19: 47,953,041 (GRCm38) K283E possibly damaging Het
Cog5 C T 12: 31,660,854 (GRCm38) Q78* probably null Het
Col20a1 C T 2: 181,001,250 (GRCm38) R796C possibly damaging Het
Dnah7b A T 1: 46,126,680 (GRCm38) T502S probably benign Het
Dnm1l A G 16: 16,342,695 (GRCm38) probably null Het
Dse A T 10: 34,152,636 (GRCm38) F819L probably benign Het
Eloa G T 4: 136,011,242 (GRCm38) L136I possibly damaging Het
Eloa T A 4: 136,011,265 (GRCm38) H128L probably benign Het
Fbxl6 T C 15: 76,537,724 (GRCm38) E205G possibly damaging Het
Golim4 T G 3: 75,895,040 (GRCm38) N287T probably benign Het
Gpx8 T A 13: 113,043,148 (GRCm38) K206N possibly damaging Het
Iqgap3 G T 3: 88,096,986 (GRCm38) V460F probably benign Het
Kcne4 A T 1: 78,817,934 (GRCm38) M100L probably benign Het
Kmt2a A T 9: 44,809,780 (GRCm38) probably benign Het
Ktn1 G A 14: 47,724,930 (GRCm38) W1117* probably null Het
Lad1 A G 1: 135,828,746 (GRCm38) D364G probably benign Het
Lmln T G 16: 33,109,850 (GRCm38) I559S probably benign Het
Mapk4 A T 18: 73,930,538 (GRCm38) F538I possibly damaging Het
Mlxipl A G 5: 135,137,399 (GRCm38) probably benign Het
Mmrn1 T C 6: 60,944,586 (GRCm38) L9P probably damaging Het
Mnat1 G A 12: 73,181,827 (GRCm38) R155H probably damaging Het
Mtmr11 T C 3: 96,167,891 (GRCm38) probably benign Het
Naaladl1 T C 19: 6,115,551 (GRCm38) L745P probably damaging Het
Obsl1 A T 1: 75,490,902 (GRCm38) D1409E probably benign Het
Oit3 T C 10: 59,428,103 (GRCm38) Y403C probably damaging Het
Pla2g4e A T 2: 120,182,713 (GRCm38) H375Q probably benign Het
Prodh2 G A 7: 30,506,452 (GRCm38) V238M probably damaging Het
Rdh14 G A 12: 10,391,231 (GRCm38) probably null Het
Rho G A 6: 115,935,230 (GRCm38) V76I probably benign Het
Rock1 A T 18: 10,080,514 (GRCm38) M1010K probably damaging Het
Ros1 A G 10: 52,162,704 (GRCm38) probably null Het
Sim1 A T 10: 50,981,612 (GRCm38) D486V probably benign Het
Src A G 2: 157,464,653 (GRCm38) D192G probably damaging Het
Stox1 T C 10: 62,659,569 (GRCm38) N975S probably benign Het
Tmem145 A G 7: 25,307,129 (GRCm38) Y54C probably damaging Het
Try4 C T 6: 41,304,971 (GRCm38) P164S possibly damaging Het
Vegfc A T 8: 54,181,095 (GRCm38) N270Y probably benign Het
Other mutations in 1110017D15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:1110017D15Rik APN 4 41,507,178 (GRCm38) missense probably damaging 1.00
IGL01062:1110017D15Rik APN 4 41,511,433 (GRCm38) missense probably damaging 1.00
IGL02645:1110017D15Rik APN 4 41,517,080 (GRCm38) missense probably damaging 1.00
IGL03124:1110017D15Rik APN 4 41,507,287 (GRCm38) missense possibly damaging 0.87
R0284:1110017D15Rik UTSW 4 41,507,538 (GRCm38) missense probably damaging 1.00
R1760:1110017D15Rik UTSW 4 41,507,330 (GRCm38) critical splice acceptor site probably null
R1761:1110017D15Rik UTSW 4 41,507,223 (GRCm38) missense probably damaging 1.00
R2073:1110017D15Rik UTSW 4 41,507,519 (GRCm38) critical splice donor site probably null
R2180:1110017D15Rik UTSW 4 41,507,170 (GRCm38) missense probably benign 0.00
R4415:1110017D15Rik UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4416:1110017D15Rik UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4417:1110017D15Rik UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4516:1110017D15Rik UTSW 4 41,517,200 (GRCm38) unclassified probably benign
R5132:1110017D15Rik UTSW 4 41,517,178 (GRCm38) unclassified probably benign
R6132:1110017D15Rik UTSW 4 41,517,160 (GRCm38) start codon destroyed probably null 0.98
R6413:1110017D15Rik UTSW 4 41,505,135 (GRCm38) missense possibly damaging 0.86
R8519:1110017D15Rik UTSW 4 41,505,071 (GRCm38) missense possibly damaging 0.93
R9493:1110017D15Rik UTSW 4 41,508,614 (GRCm38) missense
R9594:1110017D15Rik UTSW 4 41,505,091 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-07