Incidental Mutation 'RF001:Gm5414'
ID 602528
Institutional Source Beutler Lab
Gene Symbol Gm5414
Ensembl Gene ENSMUSG00000064232
Gene Name predicted gene 5414
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # RF001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 101532463-101536623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101536388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 79 (E79G)
Ref Sequence ENSEMBL: ENSMUSP00000059101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062879]
AlphaFold Q6IFZ8
Predicted Effect probably benign
Transcript: ENSMUST00000062879
AA Change: E79G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: E79G

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 148 3.3e-29 PFAM
Filament 151 464 1.4e-143 SMART
low complexity region 489 507 N/A INTRINSIC
low complexity region 511 549 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik G GTGGCTGCTA 1: 82,891,311 (GRCm39) probably benign Het
Acer1 A G 17: 57,265,909 (GRCm39) V122A probably benign Het
Adam34l T G 8: 44,079,942 (GRCm39) D94A possibly damaging Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,974 (GRCm39) probably benign Het
Ankrd24 C CGGAGGCAGAGGA 10: 81,479,405 (GRCm39) probably benign Het
Atp13a1 C A 8: 70,252,720 (GRCm39) A680D probably damaging Het
Blm CGCCTCCTCCTC CGCCTCCTCCTCAGCCTCCTCCTC 7: 80,162,651 (GRCm39) probably benign Het
Blm CTCCTCC CTCCTCCTCCTCGTCCTCC 7: 80,162,675 (GRCm39) probably benign Het
Blm CTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC 7: 80,162,654 (GRCm39) probably benign Het
Cad GT G 5: 31,217,556 (GRCm39) probably benign Het
Calhm1 GC GCTGTGGCTGTGTC 19: 47,129,715 (GRCm39) probably benign Het
Casz1 CACA C 4: 149,036,761 (GRCm39) probably benign Het
Cherp GACCTGGA G 8: 73,215,893 (GRCm39) probably null Het
Chga AGC AGCTGC 12: 102,527,682 (GRCm39) probably benign Het
Coq7 A G 7: 118,132,405 (GRCm39) S24P probably benign Het
Cul1 T C 6: 47,501,515 (GRCm39) V734A possibly damaging Het
Cyb5r4 GCCCAGGGATGTGACAGACACACT GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT 9: 86,922,469 (GRCm39) probably benign Het
Dgkz A T 2: 91,770,286 (GRCm39) F521I possibly damaging Het
Fam171b GCAGCA GCAGCATCAGCA 2: 83,643,230 (GRCm39) probably benign Het
Fat1 T G 8: 45,442,003 (GRCm39) S1102A probably benign Het
Gab3 CTT CTTTTT X: 74,043,624 (GRCm39) probably benign Het
Gm14412 T C 2: 177,008,894 (GRCm39) I52V probably benign Het
Gpc5 G A 14: 115,654,590 (GRCm39) S470N probably benign Het
Grin2b A G 6: 136,021,238 (GRCm39) V21A probably benign Het
Hecw1 C A 13: 14,472,009 (GRCm39) C553F probably damaging Het
Hsd3b6 T A 3: 98,713,756 (GRCm39) H181L probably benign Het
Il2 CCAGGTGCTGCTGC CC 3: 37,179,911 (GRCm39) probably benign Het
Inpp5f G A 7: 128,296,807 (GRCm39) G1053R probably damaging Het
Kcnma1 T G 14: 23,361,765 (GRCm39) Y1142S probably damaging Het
Kctd8 T C 5: 69,267,775 (GRCm39) K445R possibly damaging Het
Kmt2b CC CCTCCTTC 7: 30,285,807 (GRCm39) probably benign Het
Kmt2c TG TGTTGCGG 5: 25,520,773 (GRCm39) probably benign Het
Krtap28-10 CACCAC CACCACCGCCACCGCAACCAC 1: 83,020,003 (GRCm39) probably benign Het
Krtap28-10 CACAGCCACAGCCACCACAGCCACAGCCAC CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC 1: 83,019,976 (GRCm39) probably benign Het
Krtap28-10 GCCACCACAGC GCCACCACAGCCACATCCACCACAGC 1: 83,020,001 (GRCm39) probably benign Het
Lama1 A G 17: 68,059,897 (GRCm39) D662G Het
Lce1m AC ACTGCTGCTGCCCC 3: 92,925,459 (GRCm39) probably benign Het
Lce1m GCTGCCACC GCTGCCACCACTCCTGCCACC 3: 92,925,576 (GRCm39) probably benign Het
Lmo4 A C 3: 143,907,623 (GRCm39) S63A possibly damaging Het
Lrrk2 T C 15: 91,620,836 (GRCm39) I952T probably benign Het
Lyst T C 13: 13,810,426 (GRCm39) F699L probably benign Het
Matn3 T A 12: 9,008,797 (GRCm39) D303E probably benign Het
Me1 A G 9: 86,464,876 (GRCm39) Y545H probably damaging Het
Mettl3 A T 14: 52,537,756 (GRCm39) V68E probably benign Het
Mptx2 T C 1: 173,102,536 (GRCm39) N51S probably benign Het
Mylk A G 16: 34,699,741 (GRCm39) D368G probably benign Het
Myom2 T C 8: 15,131,418 (GRCm39) V372A possibly damaging Het
Neb T C 2: 52,085,433 (GRCm39) D5569G probably damaging Het
Nefh GGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,030 (GRCm39) probably benign Het
P4ha2 CCAGGTG C 11: 54,001,061 (GRCm39) probably benign Het
Pop1 G A 15: 34,502,583 (GRCm39) G90D probably damaging Het
Rbm12 CC CCGGGTATTGTGGGACCAGTTATTGCGGGAGC 2: 155,937,995 (GRCm39) probably benign Het
Sertad4 T C 1: 192,529,486 (GRCm39) Y110C probably damaging Het
Setd1a GGTAGTGGT GGTAGTGGTAGTAGTGGT 7: 127,384,486 (GRCm39) probably benign Het
Smarca2 AGC AGCCCCGGC 19: 26,608,421 (GRCm39) probably benign Het
Smarca2 ACA ACAACAGCA 19: 26,608,386 (GRCm39) probably benign Het
Supt20 AGCA AGCACCCGCA 3: 54,635,083 (GRCm39) probably benign Het
Tcof1 AGC AGCCGC 18: 60,968,811 (GRCm39) probably benign Het
Tecpr1 A G 5: 144,154,204 (GRCm39) F83S probably damaging Het
Triobp GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA 15: 78,851,227 (GRCm39) probably benign Het
Vmn1r48 A T 6: 90,013,186 (GRCm39) M213K probably benign Het
Zc3h4 CCC CCCTGACATGCATCC 7: 16,163,612 (GRCm39) probably benign Het
Zscan29 T C 2: 120,994,477 (GRCm39) N503D possibly damaging Het
Other mutations in Gm5414
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Gm5414 APN 15 101,536,569 (GRCm39) missense probably benign 0.00
IGL01774:Gm5414 APN 15 101,535,410 (GRCm39) missense probably benign 0.13
IGL01939:Gm5414 APN 15 101,534,105 (GRCm39) splice site probably benign
IGL02205:Gm5414 APN 15 101,534,304 (GRCm39) missense probably benign 0.44
IGL02411:Gm5414 APN 15 101,536,269 (GRCm39) missense probably benign 0.05
IGL02720:Gm5414 APN 15 101,533,990 (GRCm39) missense probably damaging 1.00
IGL02900:Gm5414 APN 15 101,536,242 (GRCm39) missense probably damaging 0.99
IGL03283:Gm5414 APN 15 101,535,522 (GRCm39) missense probably damaging 1.00
PIT4480001:Gm5414 UTSW 15 101,536,181 (GRCm39) missense probably damaging 1.00
PIT4504001:Gm5414 UTSW 15 101,534,258 (GRCm39) missense probably damaging 0.98
R1905:Gm5414 UTSW 15 101,533,075 (GRCm39) missense probably damaging 1.00
R2070:Gm5414 UTSW 15 101,536,495 (GRCm39) missense possibly damaging 0.52
R3011:Gm5414 UTSW 15 101,534,047 (GRCm39) missense probably damaging 1.00
R3033:Gm5414 UTSW 15 101,533,044 (GRCm39) missense probably damaging 1.00
R4074:Gm5414 UTSW 15 101,533,988 (GRCm39) missense probably benign
R4257:Gm5414 UTSW 15 101,533,107 (GRCm39) missense probably damaging 1.00
R4396:Gm5414 UTSW 15 101,534,101 (GRCm39) missense probably damaging 1.00
R4648:Gm5414 UTSW 15 101,536,543 (GRCm39) missense possibly damaging 0.72
R4912:Gm5414 UTSW 15 101,533,445 (GRCm39) missense possibly damaging 0.46
R5095:Gm5414 UTSW 15 101,532,473 (GRCm39) missense probably benign 0.01
R5135:Gm5414 UTSW 15 101,536,203 (GRCm39) missense probably damaging 0.97
R5177:Gm5414 UTSW 15 101,534,252 (GRCm39) missense possibly damaging 0.91
R5330:Gm5414 UTSW 15 101,533,099 (GRCm39) missense probably damaging 1.00
R5331:Gm5414 UTSW 15 101,533,099 (GRCm39) missense probably damaging 1.00
R5432:Gm5414 UTSW 15 101,533,069 (GRCm39) missense probably damaging 1.00
R5521:Gm5414 UTSW 15 101,536,422 (GRCm39) missense probably benign 0.33
R5623:Gm5414 UTSW 15 101,534,246 (GRCm39) missense probably damaging 1.00
R6781:Gm5414 UTSW 15 101,534,096 (GRCm39) missense possibly damaging 0.91
R8298:Gm5414 UTSW 15 101,532,605 (GRCm39) missense unknown
R8912:Gm5414 UTSW 15 101,536,620 (GRCm39) missense possibly damaging 0.94
R9092:Gm5414 UTSW 15 101,536,345 (GRCm39) missense probably benign 0.01
R9721:Gm5414 UTSW 15 101,536,582 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAGGGTCTTGATCTGCTCC -3'
(R):5'- AGAGTCAAACCAGCCACTGTG -3'

Sequencing Primer
(F):5'- AGTCCTGACCCGCTGGATG -3'
(R):5'- AGCTCAGCCAGAGTGCCTG -3'
Posted On 2019-12-04