Incidental Mutation 'R0486:Gm11555'
ID 42297
Institutional Source Beutler Lab
Gene Symbol Gm11555
Ensembl Gene ENSMUSG00000078130
Gene Name predicted gene 11555
Synonyms
MMRRC Submission 038685-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0486 (G1)
Quality Score 221
Status Not validated
Chromosome 11
Chromosomal Location 99540480-99541044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99540986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 8 (S8P)
Ref Sequence ENSEMBL: ENSMUSP00000100533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073126] [ENSMUST00000104929]
AlphaFold B1AQ89
Predicted Effect unknown
Transcript: ENSMUST00000073126
AA Change: S8P
SMART Domains Protein: ENSMUSP00000131822
Gene: ENSMUSG00000078130
AA Change: S8P

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 43 1.4e-7 PFAM
Pfam:Keratin_B2 1 79 1.9e-9 PFAM
Pfam:Keratin_B2_2 14 58 6.4e-14 PFAM
Pfam:Keratin_B2_2 39 88 2.1e-11 PFAM
Pfam:Keratin_B2_2 79 123 1.7e-12 PFAM
Pfam:Keratin_B2_2 89 134 4.6e-8 PFAM
Pfam:Keratin_B2_2 123 164 3.3e-4 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000104929
AA Change: S8P
SMART Domains Protein: ENSMUSP00000100533
Gene: ENSMUSG00000078130
AA Change: S8P

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 58 2.8e-9 PFAM
Pfam:Keratin_B2 1 74 4.2e-11 PFAM
Pfam:Keratin_B2_2 49 96 2.1e-11 PFAM
Pfam:Keratin_B2_2 59 117 2.6e-6 PFAM
Pfam:Keratin_B2_2 89 133 5.7e-13 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,177,783 (GRCm39) L268P probably damaging Het
Adam22 A T 5: 8,380,048 (GRCm39) H83Q probably damaging Het
Anln T C 9: 22,264,122 (GRCm39) D886G probably benign Het
Arhgef11 T A 3: 87,596,159 (GRCm39) probably null Het
Ark2c T A 18: 77,571,950 (GRCm39) Q91L probably damaging Het
Arl8b A T 6: 108,792,287 (GRCm39) D116V possibly damaging Het
BC051665 C T 13: 60,931,859 (GRCm39) G180D probably damaging Het
Bloc1s2 A G 19: 44,131,589 (GRCm39) probably benign Het
Ccdc185 T G 1: 182,575,424 (GRCm39) S422R possibly damaging Het
Cd101 T C 3: 100,915,408 (GRCm39) K720E possibly damaging Het
Cdh23 C A 10: 60,222,725 (GRCm39) A1236S probably damaging Het
Chd1 G A 17: 15,954,604 (GRCm39) A491T probably damaging Het
Chdh T C 14: 29,754,815 (GRCm39) V275A possibly damaging Het
Cmtm2b A T 8: 105,057,047 (GRCm39) I136F probably damaging Het
Cps1 T C 1: 67,204,551 (GRCm39) V457A probably damaging Het
Cwf19l1 A G 19: 44,103,129 (GRCm39) V362A probably benign Het
Cyp4f17 T C 17: 32,743,797 (GRCm39) probably benign Het
Cyp4f18 C A 8: 72,749,861 (GRCm39) V263L probably benign Het
Dclre1a A G 19: 56,529,922 (GRCm39) probably benign Het
Dpp6 T C 5: 27,866,640 (GRCm39) I446T probably benign Het
F11r T C 1: 171,288,156 (GRCm39) W61R probably damaging Het
Fam120b C T 17: 15,646,550 (GRCm39) probably benign Het
Fastkd2 T C 1: 63,791,499 (GRCm39) V669A possibly damaging Het
Foxg1 T C 12: 49,431,314 (GRCm39) probably benign Het
Foxo3 A G 10: 42,073,477 (GRCm39) Y347H probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gbp7 C A 3: 142,252,078 (GRCm39) probably benign Het
Glipr1 T C 10: 111,832,754 (GRCm39) probably benign Het
H6pd G A 4: 150,067,393 (GRCm39) probably benign Het
Haus8 C A 8: 71,709,181 (GRCm39) G76W probably damaging Het
Haus8 C T 8: 71,709,182 (GRCm39) M75I probably benign Het
Kcnj13 C A 1: 87,314,752 (GRCm39) V157L probably damaging Het
Kcnt2 T A 1: 140,437,218 (GRCm39) C550* probably null Het
Kdm5d A G Y: 927,107 (GRCm39) N615S probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncapd2 G A 6: 125,160,990 (GRCm39) R292* probably null Het
Ngef T A 1: 87,406,848 (GRCm39) N640I probably damaging Het
Nhlrc3 T C 3: 53,359,858 (GRCm39) Y335C probably damaging Het
Nipbl A T 15: 8,368,354 (GRCm39) probably benign Het
Nop2 A G 6: 125,117,636 (GRCm39) K434R probably null Het
Nr4a3 T C 4: 48,056,525 (GRCm39) probably benign Het
Or8b35 A G 9: 37,903,998 (GRCm39) N70S possibly damaging Het
Piezo2 A C 18: 63,162,132 (GRCm39) I2233R probably damaging Het
Prag1 A T 8: 36,613,787 (GRCm39) E1113V probably damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Psmd1 T A 1: 86,022,012 (GRCm39) N611K probably damaging Het
Ptpn7 C T 1: 135,065,096 (GRCm39) T168I probably damaging Het
Pus1 A T 5: 110,927,596 (GRCm39) V53E probably damaging Het
Rgs22 A G 15: 36,093,028 (GRCm39) M415T probably damaging Het
Rnf17 C T 14: 56,751,632 (GRCm39) T1490M probably benign Het
Rnf20 C A 4: 49,645,907 (GRCm39) L332I possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spam1 A T 6: 24,796,394 (GRCm39) Q115L probably damaging Het
Syce1l A T 8: 114,381,395 (GRCm39) probably null Het
Synj1 T C 16: 90,735,151 (GRCm39) probably benign Het
Tas2r126 A T 6: 42,412,225 (GRCm39) I253F probably benign Het
Tecpr2 G A 12: 110,862,803 (GRCm39) V72I probably benign Het
Tfap2a G T 13: 40,882,170 (GRCm39) P45Q probably damaging Het
Trip12 C A 1: 84,738,805 (GRCm39) G714* probably null Het
Wdr31 A G 4: 62,372,130 (GRCm39) S330P probably damaging Het
Wdr64 T C 1: 175,622,769 (GRCm39) probably benign Het
Yes1 T A 5: 32,812,926 (GRCm39) Y343* probably null Het
Other mutations in Gm11555
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0531:Gm11555 UTSW 11 99,540,844 (GRCm39) splice site probably benign
R2226:Gm11555 UTSW 11 99,540,585 (GRCm39) missense unknown
R3870:Gm11555 UTSW 11 99,540,816 (GRCm39) nonsense probably null
R7759:Gm11555 UTSW 11 99,540,568 (GRCm39) missense unknown
R9075:Gm11555 UTSW 11 99,540,694 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTGACTGGCAGCACACAGACTG -3'
(R):5'- AGGGACCCAACCCATGTGATGAAC -3'

Sequencing Primer
(F):5'- AGACTGGCAACACTGGGG -3'
(R):5'- GTGCTTCTGTGACAAAGACC -3'
Posted On 2013-05-23