Incidental Mutation 'IGL01982:Ctsq'
ID182744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsq
Ensembl Gene ENSMUSG00000021439
Gene Namecathepsin Q
Synonyms1600010J02Rik
Accession Numbers

Ncbi RefSeq: NM_029636.3; MGI:2137385

Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01982
Quality Score
Status
Chromosome13
Chromosomal Location61035024-61040631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61038918 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 91 (I91F)
Ref Sequence ENSEMBL: ENSMUSP00000021888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021888]
Predicted Effect probably benign
Transcript: ENSMUST00000021888
AA Change: I91F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: I91F

DomainStartEndE-ValueType
Inhibitor_I29 29 88 3.76e-24 SMART
Pept_C1 125 342 3.46e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144401
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T G 17: 33,066,315 E504D probably benign Het
Abca12 A C 1: 71,346,698 S254A probably benign Het
Abca7 T G 10: 80,002,641 L583R probably damaging Het
Acp1 A T 12: 30,911,492 L14H possibly damaging Het
Adar A G 3: 89,738,090 I3V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1l1 A G 6: 90,559,863 I103V probably benign Het
Asic3 C A 5: 24,417,721 T523N probably benign Het
Aspm T C 1: 139,491,588 V1732A probably benign Het
Atad3a C T 4: 155,753,927 R211Q possibly damaging Het
Bahcc1 A G 11: 120,287,473 Y2286C probably damaging Het
BC034090 T C 1: 155,223,332 E569G probably damaging Het
Bpifb3 A G 2: 153,925,601 N237S probably benign Het
Bysl C A 17: 47,611,071 probably null Het
C2cd6 T C 1: 59,067,773 probably benign Het
Ccdc141 A G 2: 77,030,659 F925L probably damaging Het
Cdca2 A T 14: 67,677,719 V697E probably damaging Het
Cers1 A G 8: 70,323,431 D324G probably damaging Het
Cyp11b1 T C 15: 74,839,403 N142S possibly damaging Het
Cyp3a59 G T 5: 146,104,735 S363I probably benign Het
Eps15l1 A T 8: 72,379,075 D567E probably benign Het
Esf1 G A 2: 140,164,528 A233V probably benign Het
Fras1 A T 5: 96,739,248 I2630F possibly damaging Het
Fyb A T 15: 6,580,177 E77V probably null Het
Gjb6 C A 14: 57,124,573 W77L probably damaging Het
Gm21983 A G 7: 27,180,278 V88A possibly damaging Het
Gm8247 A G 14: 44,585,631 T52A probably damaging Het
Gpr108 T C 17: 57,237,877 K329E probably damaging Het
Gpr141 T A 13: 19,751,738 H289L probably benign Het
Ilvbl T C 10: 78,579,022 Y240H probably damaging Het
Kntc1 G A 5: 123,809,096 A1868T probably benign Het
Lrmda A C 14: 22,584,482 N112T probably damaging Het
Ly75 T C 2: 60,311,764 Y1334C probably damaging Het
Macc1 C A 12: 119,445,634 P46T probably benign Het
Madd A T 2: 91,175,707 F381Y probably damaging Het
Map3k20 C T 2: 72,298,333 Q38* probably null Het
Mcm4 A T 16: 15,630,420 D424E possibly damaging Het
Micu1 T A 10: 59,863,278 M463K possibly damaging Het
Mkrn2os A G 6: 115,585,531 L157P probably damaging Het
Nectin2 A G 7: 19,717,562 S516P probably damaging Het
Nme5 T A 18: 34,569,875 D120V probably damaging Het
Npy4r T C 14: 34,147,325 N2S possibly damaging Het
Nup107 A T 10: 117,759,340 probably benign Het
Omd T C 13: 49,589,497 Y8H possibly damaging Het
Ppp1r15a T C 7: 45,524,379 probably benign Het
Ppp2ca T C 11: 52,099,064 F6L probably benign Het
Rab1a T C 11: 20,224,717 S97P probably benign Het
Ranbp3l G A 15: 9,058,746 G359R probably damaging Het
Rnf213 A T 11: 119,443,268 H3101L probably damaging Het
Slc27a4 T C 2: 29,812,615 F509S probably damaging Het
Slco4a1 T C 2: 180,473,153 V623A probably benign Het
Spg20 T A 3: 55,128,490 probably null Het
Sptan1 A G 2: 30,019,968 D1780G probably damaging Het
Tgm7 G T 2: 121,093,625 Y605* probably null Het
Tmem106b T C 6: 13,071,969 probably benign Het
Trak2 G A 1: 58,926,655 A120V possibly damaging Het
Trappc8 G A 18: 20,874,712 probably benign Het
Trim66 T C 7: 109,458,763 T973A probably benign Het
Ttyh3 C A 5: 140,636,074 probably benign Het
Ugt2b37 A C 5: 87,242,432 I385S probably damaging Het
Usf3 A G 16: 44,218,817 N1220S possibly damaging Het
Utrn A T 10: 12,748,029 I155N probably damaging Het
Vps13b C T 15: 35,438,904 Q377* probably null Het
Washc2 A T 6: 116,236,189 E570D probably benign Het
Wscd1 T C 11: 71,766,873 V168A possibly damaging Het
Zfp386 T A 12: 116,059,168 C169S probably benign Het
Other mutations in Ctsq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Ctsq APN 13 61037714 missense probably damaging 0.96
IGL00585:Ctsq APN 13 61037127 missense probably benign 0.00
IGL00743:Ctsq APN 13 61036184 missense probably damaging 1.00
IGL00897:Ctsq APN 13 61037725 missense probably damaging 1.00
IGL01679:Ctsq APN 13 61038908 missense probably benign 0.00
IGL01982:Ctsq APN 13 61039521 missense probably benign 0.05
IGL02448:Ctsq APN 13 61036230 missense probably damaging 1.00
R0036:Ctsq UTSW 13 61037671 critical splice donor site probably null
R0036:Ctsq UTSW 13 61037671 critical splice donor site probably null
R0741:Ctsq UTSW 13 61036205 missense probably damaging 0.99
R1192:Ctsq UTSW 13 61039045 missense probably damaging 1.00
R1593:Ctsq UTSW 13 61036172 splice site probably null
R3906:Ctsq UTSW 13 61038771 missense probably damaging 1.00
R4483:Ctsq UTSW 13 61038912 missense probably benign 0.01
R4590:Ctsq UTSW 13 61036214 missense probably benign 0.17
R5157:Ctsq UTSW 13 61037099 missense probably benign 0.00
R5365:Ctsq UTSW 13 61037818 missense possibly damaging 0.95
R5366:Ctsq UTSW 13 61037099 missense probably benign 0.00
R5546:Ctsq UTSW 13 61037888 nonsense probably null
R5595:Ctsq UTSW 13 61037060 missense probably benign 0.41
R6046:Ctsq UTSW 13 61039141 missense probably benign 0.00
R6049:Ctsq UTSW 13 61038758 critical splice donor site probably null
R6535:Ctsq UTSW 13 61035326 missense probably damaging 1.00
R6537:Ctsq UTSW 13 61035326 missense probably damaging 1.00
R7159:Ctsq UTSW 13 61038923 missense probably benign 0.00
Posted On2014-05-07