Incidental Mutation 'IGL03350:Zufsp'
ID419651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zufsp
Ensembl Gene ENSMUSG00000039531
Gene Namezinc finger with UFM1-specific peptidase domain
Synonyms2700019D07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL03350
Quality Score
Status
Chromosome10
Chromosomal Location33919142-33951269 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33928111 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 456 (R456C)
Ref Sequence ENSEMBL: ENSMUSP00000151662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048222] [ENSMUST00000218055] [ENSMUST00000218275] [ENSMUST00000218880] [ENSMUST00000219457] [ENSMUST00000219878]
Predicted Effect probably benign
Transcript: ENSMUST00000048222
AA Change: R456C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: R456C

DomainStartEndE-ValueType
ZnF_C2H2 2 24 5.42e-2 SMART
ZnF_C2H2 29 52 1.13e1 SMART
ZnF_C2H2 153 176 2.47e1 SMART
ZnF_C2H2 192 214 6.23e-2 SMART
coiled coil region 236 267 N/A INTRINSIC
Pfam:Peptidase_C78 334 550 1.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218055
AA Change: R456C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000218275
Predicted Effect probably benign
Transcript: ENSMUST00000218880
AA Change: R456C

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000219457
Predicted Effect probably benign
Transcript: ENSMUST00000219878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219935
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Brat1 T C 5: 140,705,995 L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 S456R probably damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 D342G probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Nfs1 T C 2: 156,127,740 E329G probably benign Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rad23a T C 8: 84,837,479 E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Ribc2 T A 15: 85,135,502 W162R probably damaging Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 T126A probably benign Het
Zpld1 A G 16: 55,241,329 probably benign Het
Other mutations in Zufsp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02510:Zufsp APN 10 33930154 critical splice donor site probably null
IGL02586:Zufsp APN 10 33935265 intron probably benign
R0145:Zufsp UTSW 10 33943713 missense probably damaging 0.96
R1156:Zufsp UTSW 10 33949226 missense probably benign 0.15
R1523:Zufsp UTSW 10 33927440 missense probably damaging 1.00
R1769:Zufsp UTSW 10 33935176 missense probably damaging 1.00
R1802:Zufsp UTSW 10 33943718 missense probably damaging 0.98
R2013:Zufsp UTSW 10 33929824 missense possibly damaging 0.75
R2014:Zufsp UTSW 10 33929824 missense possibly damaging 0.75
R2015:Zufsp UTSW 10 33929824 missense possibly damaging 0.75
R2017:Zufsp UTSW 10 33927464 missense possibly damaging 0.46
R2342:Zufsp UTSW 10 33928117 missense probably damaging 1.00
R2901:Zufsp UTSW 10 33927612 missense probably damaging 1.00
R2901:Zufsp UTSW 10 33928063 missense probably benign
R3813:Zufsp UTSW 10 33940222 missense possibly damaging 0.63
R4488:Zufsp UTSW 10 33948964 missense probably damaging 1.00
R4674:Zufsp UTSW 10 33948984 missense possibly damaging 0.92
R4883:Zufsp UTSW 10 33949042 missense probably damaging 0.98
R4926:Zufsp UTSW 10 33949438 missense probably damaging 1.00
R5163:Zufsp UTSW 10 33949443 missense probably damaging 1.00
R5373:Zufsp UTSW 10 33927466 missense possibly damaging 0.46
R5374:Zufsp UTSW 10 33927466 missense possibly damaging 0.46
R5924:Zufsp UTSW 10 33927547 missense probably damaging 0.96
R5929:Zufsp UTSW 10 33949047 nonsense probably null
R5941:Zufsp UTSW 10 33949462 missense probably damaging 1.00
R6337:Zufsp UTSW 10 33949256 missense probably benign 0.00
R6663:Zufsp UTSW 10 33949435 missense possibly damaging 0.86
R6753:Zufsp UTSW 10 33928029 missense probably damaging 1.00
R7690:Zufsp UTSW 10 33930155 critical splice donor site probably null
R7772:Zufsp UTSW 10 33921702 intron probably null
R7836:Zufsp UTSW 10 33919319 missense unknown
R7919:Zufsp UTSW 10 33919319 missense unknown
R8054:Zufsp UTSW 10 33940252 missense probably damaging 1.00
X0063:Zufsp UTSW 10 33943687 missense probably damaging 1.00
Posted On2016-08-02