Incidental Mutation 'R5520:AI467606'
ID431506
Institutional Source Beutler Lab
Gene Symbol AI467606
Ensembl Gene ENSMUSG00000045165
Gene Nameexpressed sequence AI467606
Synonyms
MMRRC Submission 043079-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5520 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location127091359-127093986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 127092826 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 191 (P191L)
Ref Sequence ENSEMBL: ENSMUSP00000146315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056288] [ENSMUST00000206102]
Predicted Effect probably benign
Transcript: ENSMUST00000056288
AA Change: P191L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063016
Gene: ENSMUSG00000045165
AA Change: P191L

DomainStartEndE-ValueType
Pfam:DUF4689 1 224 1.1e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206102
AA Change: P191L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.8%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik A G 17: 33,065,393 Y812H probably benign Het
4931408C20Rik A T 1: 26,685,819 N93K probably benign Het
Arl9 T C 5: 77,006,593 V56A probably damaging Het
C87499 A C 4: 88,630,040 S43A probably damaging Het
Cacng5 T C 11: 107,877,422 Q253R probably benign Het
Cc2d1b T C 4: 108,626,359 M331T possibly damaging Het
Cep97 A G 16: 55,915,296 S380P probably benign Het
Clpx A T 9: 65,317,448 K153* probably null Het
Dclk2 A G 3: 86,919,840 S111P probably damaging Het
Doxl2 C A 6: 48,975,794 Q218K possibly damaging Het
E2f7 A G 10: 110,759,945 E167G probably damaging Het
Edn1 T C 13: 42,301,960 probably null Het
Farp1 C T 14: 121,235,077 P208L probably damaging Het
Fbxw18 G T 9: 109,691,521 H257N probably benign Het
Ftsj3 T C 11: 106,255,588 T22A probably benign Het
Gm17019 A T 5: 15,032,805 M45K possibly damaging Het
Gm438 T A 4: 144,778,024 T186S probably benign Het
Gpr162 T C 6: 124,860,913 D258G probably damaging Het
Grk1 T A 8: 13,409,305 D285E probably benign Het
Herc6 A T 6: 57,647,120 D625V possibly damaging Het
Igkv1-135 C T 6: 67,610,340 P65L possibly damaging Het
Lepr T C 4: 101,745,537 L174P probably benign Het
Nphp3 A G 9: 104,024,673 S689G probably benign Het
Olfr1153 T C 2: 87,896,409 probably benign Het
Olfr301 T A 7: 86,412,856 S165T probably benign Het
Plxnb2 T G 15: 89,167,543 T158P possibly damaging Het
R3hcc1 T A 14: 69,698,608 K437* probably null Het
Rnf213 C A 11: 119,433,499 H1428Q probably damaging Het
Ssx2ip G A 3: 146,437,311 R548H probably benign Het
Trim23 C T 13: 104,187,527 R165C probably damaging Het
Trove2 A T 1: 143,770,771 S79T probably benign Het
Ulk2 T G 11: 61,808,144 T405P probably damaging Het
Unkl G A 17: 25,205,610 V204I probably damaging Het
Vmn1r43 T C 6: 89,869,746 T253A probably damaging Het
Zfp534 T C 4: 147,675,430 I261V possibly damaging Het
Other mutations in AI467606
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:AI467606 APN 7 127092333 missense probably benign 0.08
IGL00952:AI467606 APN 7 127092702 missense probably damaging 0.98
IGL02344:AI467606 APN 7 127092519 missense probably damaging 0.97
R0401:AI467606 UTSW 7 127092436 missense probably damaging 1.00
R1628:AI467606 UTSW 7 127092583 missense probably benign
R2063:AI467606 UTSW 7 127092837 missense probably damaging 1.00
R6392:AI467606 UTSW 7 127092545 nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCTTAGAGGGCAGAGCAAC -3'
(R):5'- AAATTTCCAGCGCAAGGGTC -3'

Sequencing Primer
(F):5'- GCTCCACCAGCCACTTCAG -3'
(R):5'- CGCAAGGGTCAGGCCTAAG -3'
Posted On2016-10-05