Incidental Mutation 'R0968:Gm11569'
ID 83960
Institutional Source Beutler Lab
Gene Symbol Gm11569
Ensembl Gene ENSMUSG00000078260
Gene Name predicted gene 11569
Synonyms
MMRRC Submission 039097-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0968 (G1)
Quality Score 143
Status Not validated
Chromosome 11
Chromosomal Location 99688890-99689758 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 99689250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105057] [ENSMUST00000105058]
AlphaFold B1AQB1
Predicted Effect unknown
Transcript: ENSMUST00000105057
AA Change: C150S
SMART Domains Protein: ENSMUSP00000100678
Gene: ENSMUSG00000078260
AA Change: C150S

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 52 1.2e-9 PFAM
Pfam:Keratin_B2 1 79 3.8e-12 PFAM
Pfam:Keratin_B2_2 39 83 1.1e-14 PFAM
Pfam:Keratin_B2_2 79 128 3.7e-10 PFAM
Pfam:Keratin_B2_2 101 148 1.7e-9 PFAM
Pfam:Keratin_B2_2 114 158 9.9e-13 PFAM
Pfam:Keratin_B2_2 139 180 4.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105058
SMART Domains Protein: ENSMUSP00000100679
Gene: ENSMUSG00000078261

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 48 2.7e-9 PFAM
Pfam:Keratin_B2 1 69 1.9e-10 PFAM
Pfam:Keratin_B2_2 14 58 1.1e-13 PFAM
Pfam:Keratin_B2_2 39 86 4.7e-11 PFAM
Pfam:Keratin_B2_2 84 128 8.2e-13 PFAM
Pfam:Keratin_B2_2 129 173 5.2e-12 PFAM
Pfam:Keratin_B2_2 164 205 3.7e-9 PFAM
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 94% (34/36)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,967 (GRCm39) V719M probably damaging Het
Abca13 A G 11: 9,248,016 (GRCm39) S2588G probably benign Het
Acaca C T 11: 84,129,859 (GRCm39) Q405* probably null Het
Brms1l G A 12: 55,912,798 (GRCm39) D264N possibly damaging Het
Cabcoco1 T C 10: 68,272,202 (GRCm39) M254V probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Coro7 G C 16: 4,487,919 (GRCm39) probably benign Het
Cylc2 A G 4: 51,216,706 (GRCm39) M1V probably null Het
Cyp3a11 G A 5: 145,799,324 (GRCm39) probably benign Het
Dnah10 C T 5: 124,906,641 (GRCm39) T4224M probably damaging Het
Dnah2 T C 11: 69,339,345 (GRCm39) E3054G possibly damaging Het
Dnm3 A G 1: 161,847,388 (GRCm39) probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Fgf12 T C 16: 27,981,185 (GRCm39) N177S probably null Het
Flt3 C T 5: 147,278,037 (GRCm39) V846I possibly damaging Het
Gm12695 A C 4: 96,650,303 (GRCm39) V181G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lars1 C A 18: 42,351,648 (GRCm39) R852L probably benign Het
Lca5 T C 9: 83,305,222 (GRCm39) T195A probably benign Het
Lrrc40 G A 3: 157,742,426 (GRCm39) D14N probably damaging Het
Map4k2 T C 19: 6,395,487 (GRCm39) S327P probably damaging Het
Mpp4 A G 1: 59,169,249 (GRCm39) F397L probably damaging Het
Mtus2 T C 5: 148,014,994 (GRCm39) S596P probably benign Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Nadsyn1 T C 7: 143,359,770 (GRCm39) T401A probably benign Het
Pde6a A T 18: 61,386,809 (GRCm39) E395D probably damaging Het
Plekhm2 A G 4: 141,357,243 (GRCm39) V743A probably benign Het
Pzp A T 6: 128,502,108 (GRCm39) D80E probably benign Het
Rp1 A T 1: 4,415,575 (GRCm39) C1846S probably benign Het
Shbg A G 11: 69,508,014 (GRCm39) L117P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Supt20 A G 3: 54,615,821 (GRCm39) probably benign Het
Vcpip1 A T 1: 9,816,604 (GRCm39) I593N probably damaging Het
Other mutations in Gm11569
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4486001:Gm11569 UTSW 11 99,689,491 (GRCm39) small deletion probably benign
R5696:Gm11569 UTSW 11 99,689,556 (GRCm39) unclassified probably benign
R6789:Gm11569 UTSW 11 99,689,657 (GRCm39) unclassified probably benign
R6886:Gm11569 UTSW 11 99,689,247 (GRCm39) unclassified probably benign
R8007:Gm11569 UTSW 11 99,689,688 (GRCm39) missense unknown
R8047:Gm11569 UTSW 11 99,689,616 (GRCm39) missense unknown
R8873:Gm11569 UTSW 11 99,689,210 (GRCm39) missense unknown
R9154:Gm11569 UTSW 11 99,689,267 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTTGGGACTCAGAACACACATGGAC -3'
(R):5'- CAGCCCCTCAGCAGGGTATAAAAG -3'

Sequencing Primer
(F):5'- GAACACACATGGACTACATTAGG -3'
(R):5'- tgtgctgccagcctacc -3'
Posted On 2013-11-08