Incidental Mutation 'R5941:Zufsp'
ID 460277
Institutional Source Beutler Lab
Gene Symbol Zufsp
Ensembl Gene ENSMUSG00000039531
Gene Name zinc finger with UFM1-specific peptidase domain
Synonyms 2700019D07Rik
MMRRC Submission 044133-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5941 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 33919142-33951269 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33949462 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 8 (G8D)
Ref Sequence ENSEMBL: ENSMUSP00000151477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048222] [ENSMUST00000218055] [ENSMUST00000218222] [ENSMUST00000218275] [ENSMUST00000218880] [ENSMUST00000218892] [ENSMUST00000219457] [ENSMUST00000219878]
AlphaFold Q3T9Z9
Predicted Effect possibly damaging
Transcript: ENSMUST00000048222
AA Change: G8D

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: G8D

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 possibly damaging
Transcript: ENSMUST00000218055
AA Change: G8D

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000218222
AA Change: G8D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218275
AA Change: G8D

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000218880
AA Change: G8D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218892
AA Change: G8D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219457
AA Change: G8D

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000219878
AA Change: G8D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7363 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 97% (95/98)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,591,098 D70E probably damaging Het
Adamts14 C T 10: 61,221,895 G561R probably damaging Het
Alpk3 A T 7: 81,078,653 K510N probably damaging Het
Ap3b1 A G 13: 94,440,273 N269D probably benign Het
Ap3b1 T C 13: 94,483,265 S144P probably damaging Het
Apba2 C A 7: 64,745,716 Q635K probably benign Het
Aspg C T 12: 112,113,085 T99I probably benign Het
Atp7b A G 8: 21,997,496 V1179A probably damaging Het
Bbs12 T C 3: 37,320,048 V215A probably damaging Het
Bcl2l11 C A 2: 128,127,783 probably benign Het
Bglap3 T G 3: 88,376,346 probably benign Het
Cchcr1 G A 17: 35,524,993 R284Q probably damaging Het
Cdh26 C T 2: 178,481,650 Q662* probably null Het
Cftr T A 6: 18,313,646 F1290I probably damaging Het
Clip3 G A 7: 30,292,306 E36K probably damaging Het
Cog2 A G 8: 124,546,086 I541V probably benign Het
Cpt1b A T 15: 89,425,214 W39R probably damaging Het
Csmd1 A G 8: 15,932,471 V2732A probably damaging Het
Dlec1 A G 9: 119,126,312 D688G probably damaging Het
Dnah12 A G 14: 26,706,867 E216G probably benign Het
Dnah7b C A 1: 46,187,290 L1294I probably damaging Het
Duox1 T A 2: 122,344,156 L1265Q probably damaging Het
Fam91a1 T A 15: 58,431,317 D358E probably benign Het
Fat3 A C 9: 15,999,501 I1735S probably benign Het
Fkbpl G A 17: 34,645,329 A24T probably benign Het
Gabrr1 T A 4: 33,162,676 M414K probably benign Het
Gm21915 A C 9: 40,670,699 E29D possibly damaging Het
Gm340 G A 19: 41,586,400 R1198Q probably damaging Het
Gm9955 G A 18: 24,709,263 probably benign Het
Gpat2 C A 2: 127,428,275 D69E possibly damaging Het
Grin2b T G 6: 135,736,373 I837L probably damaging Het
Gucy2g T C 19: 55,215,131 D745G probably damaging Het
H2-Q1 A G 17: 35,321,356 Y139C probably damaging Het
Ints2 G C 11: 86,250,972 N216K probably benign Het
Jmy G A 13: 93,498,825 P161L probably benign Het
Kctd11 G A 11: 69,879,973 R80W possibly damaging Het
Kif7 A G 7: 79,711,132 probably benign Het
Kifc1 C T 17: 33,883,085 probably benign Het
Mir412 C A 12: 109,743,299 noncoding transcript Het
Mknk1 T A 4: 115,876,637 probably benign Het
Mmp16 A G 4: 18,054,354 probably benign Het
Mmp7 A G 9: 7,697,645 H227R probably damaging Het
Myh4 A C 11: 67,259,300 D1861A probably damaging Het
Nup205 T C 6: 35,232,408 L1550P probably damaging Het
Olfr1218 T A 2: 89,054,619 H269L probably benign Het
Olfr1510 C T 14: 52,410,068 G268D probably benign Het
Olfr444 G T 6: 42,955,716 A73S possibly damaging Het
Olfr48 T A 2: 89,844,515 I153F probably benign Het
Olfr609 A G 7: 103,492,720 S53P possibly damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pafah1b2 A T 9: 45,976,107 C35* probably null Het
Pappa T A 4: 65,314,593 F1323Y possibly damaging Het
Phtf2 A T 5: 20,774,073 F519Y probably damaging Het
Pigk T C 3: 152,766,513 I354T possibly damaging Het
Plekha7 T C 7: 116,124,805 D1265G possibly damaging Het
Prss12 A G 3: 123,505,501 R641G probably benign Het
Prss28 A G 17: 25,309,743 Y53C probably damaging Het
Rabgap1 G T 2: 37,561,896 C936F possibly damaging Het
Rap1a T C 3: 105,732,069 I91M possibly damaging Het
Rap1gap2 A T 11: 74,392,237 M679K probably damaging Het
Rapgef5 T A 12: 117,728,738 L352I probably damaging Het
Rhbdl3 G A 11: 80,331,889 V255M probably benign Het
Rhot1 T C 11: 80,251,170 probably benign Het
Rita1 A C 5: 120,609,561 V224G probably benign Het
Ryr2 T A 13: 11,687,902 Y2900F probably damaging Het
Scaf11 A C 15: 96,420,308 H458Q probably damaging Het
Scamp4 T A 10: 80,612,421 S159T probably benign Het
Setd5 T A 6: 113,128,490 Y828N probably damaging Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Sipa1l2 A G 8: 125,473,536 S684P probably damaging Het
Stard9 A T 2: 120,713,558 I4446F probably damaging Het
Sult1c2 T C 17: 53,831,898 D217G probably benign Het
Supt16 C A 14: 52,182,196 K148N probably benign Het
Syne3 G A 12: 104,946,992 S570L probably benign Het
Tcf3 G T 10: 80,413,044 D534E probably benign Het
Tmed6 G T 8: 107,064,154 T87K probably damaging Het
Trbv3 T C 6: 41,048,401 I3T probably benign Het
Trbv4 T A 6: 41,059,629 Y29* probably null Het
Ttl A G 2: 129,075,984 N122S probably benign Het
Txndc11 T C 16: 11,075,071 T932A probably benign Het
Ube2e2 G A 14: 18,586,910 A150V probably damaging Het
Ube2ql1 T C 13: 69,739,340 M1V probably null Het
Uqcrc1 A G 9: 108,947,486 probably benign Het
Utrn T C 10: 12,486,483 D2702G probably damaging Het
Vcan T A 13: 89,692,691 D618V probably damaging Het
Vdac3-ps1 A G 13: 18,031,202 noncoding transcript Het
Wee1 TCCCC TCCC 7: 110,124,569 probably null Het
Zap70 G A 1: 36,770,949 V47M probably damaging Het
Zfp770 A G 2: 114,197,546 M14T possibly damaging 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
IGL03350:Zufsp APN 10 33928111 missense probably benign 0.04
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
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 splice site probably null
R7836:Zufsp UTSW 10 33919319 missense unknown
R7919:Zufsp UTSW 10 33949112 missense possibly damaging 0.92
R8054:Zufsp UTSW 10 33940252 missense probably damaging 1.00
R8943:Zufsp UTSW 10 33919305 makesense probably null
R9433:Zufsp UTSW 10 33919359 missense probably damaging 1.00
X0063:Zufsp UTSW 10 33943687 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTGCAGCTAGCTTCTCAG -3'
(R):5'- CCTGTAGCTAGGCTTTCTTAGGAC -3'

Sequencing Primer
(F):5'- GACAACTTGCAAAATGGACA -3'
(R):5'- ATACTCCACAGAAGAGTCCC -3'
Posted On 2017-02-28