Incidental Mutation 'R1600:Zswim9'
ID 176089
Institutional Source Beutler Lab
Gene Symbol Zswim9
Ensembl Gene ENSMUSG00000070814
Gene Name zinc finger SWIM-type containing 9
Synonyms 6330408A02Rik
MMRRC Submission 039637-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1600 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 12992894-13012647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13003497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 118 (C118R)
Ref Sequence ENSEMBL: ENSMUSP00000112825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108532] [ENSMUST00000119139] [ENSMUST00000119558]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000108532
AA Change: C118R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: C118R

DomainStartEndE-ValueType
low complexity region 213 224 N/A INTRINSIC
low complexity region 405 423 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119139
AA Change: C118R

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
AA Change: C118R

DomainStartEndE-ValueType
low complexity region 213 224 N/A INTRINSIC
low complexity region 405 423 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119558
AA Change: C118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140530
Meta Mutation Damage Score 0.4451 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 85% (41/48)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,881,174 (GRCm39) probably benign Het
Acot3 C T 12: 84,105,484 (GRCm39) A317V probably benign Het
Ahrr T C 13: 74,362,497 (GRCm39) D334G probably benign Het
Alpk2 C T 18: 65,511,108 (GRCm39) V30M probably damaging Het
Arhgef25 G T 10: 127,021,158 (GRCm39) H281N probably damaging Het
B3gntl1 A G 11: 121,521,662 (GRCm39) M175T probably damaging Het
Brca2 T A 5: 150,484,295 (GRCm39) probably benign Het
Ccnj A T 19: 40,833,101 (GRCm39) probably benign Het
Cebpzos A G 17: 79,225,817 (GRCm39) K11E probably damaging Het
Col6a6 A G 9: 105,655,274 (GRCm39) S816P probably damaging Het
Cul4a A G 8: 13,173,954 (GRCm39) R64G probably damaging Het
Cul7 C A 17: 46,962,748 (GRCm39) C126* probably null Het
Ercc2 T C 7: 19,119,866 (GRCm39) Y176H probably benign Het
Frem2 T G 3: 53,455,144 (GRCm39) D2144A probably damaging Het
Gabrg3 A T 7: 56,384,822 (GRCm39) Y246* probably null Het
Gpatch2l T C 12: 86,303,708 (GRCm39) probably null Het
Grk1 A G 8: 13,455,406 (GRCm39) T97A probably benign Het
Hmcn2 A G 2: 31,320,799 (GRCm39) E4004G probably damaging Het
Kcnu1 A T 8: 26,339,821 (GRCm39) R46S probably damaging Het
Lrrfip1 T C 1: 91,042,389 (GRCm39) S265P probably damaging Het
Lyve1 A G 7: 110,452,902 (GRCm39) probably null Het
Mme A G 3: 63,272,479 (GRCm39) Y659C probably damaging Het
Mrs2 G T 13: 25,179,393 (GRCm39) N299K possibly damaging Het
Mtnr1b T C 9: 15,774,615 (GRCm39) Y148C probably damaging Het
Myo5b T A 18: 74,846,611 (GRCm39) probably benign Het
Neb A G 2: 52,161,616 (GRCm39) Y2059H probably damaging Het
Nkain3 T C 4: 20,469,528 (GRCm39) probably benign Het
Peg10 A T 6: 4,757,080 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,537 (GRCm39) E160G possibly damaging Het
Rufy2 A G 10: 62,842,450 (GRCm39) T458A probably benign Het
Sec14l1 G A 11: 117,041,430 (GRCm39) V448I probably benign Het
Tbx19 C T 1: 164,970,136 (GRCm39) G251D possibly damaging Het
Tcstv7b T C 13: 120,702,369 (GRCm39) V55A probably benign Het
Trappc9 G A 15: 72,808,958 (GRCm39) Q711* probably null Het
Trpm3 A G 19: 22,116,519 (GRCm39) R13G probably benign Het
Usp33 G T 3: 152,085,247 (GRCm39) A628S probably damaging Het
Vps13a T C 19: 16,643,636 (GRCm39) N2080S probably benign Het
Wdr45b A T 11: 121,221,015 (GRCm39) I221N probably damaging Het
Zfp119a A T 17: 56,175,355 (GRCm39) W47R possibly damaging Het
Other mutations in Zswim9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Zswim9 APN 7 12,994,248 (GRCm39) missense possibly damaging 0.53
IGL02063:Zswim9 APN 7 12,994,608 (GRCm39) missense probably damaging 0.98
R0568:Zswim9 UTSW 7 12,994,952 (GRCm39) missense probably damaging 0.99
R0680:Zswim9 UTSW 7 12,994,248 (GRCm39) missense probably benign 0.10
R1438:Zswim9 UTSW 7 13,011,144 (GRCm39) missense possibly damaging 0.86
R1678:Zswim9 UTSW 7 13,011,337 (GRCm39) missense probably benign 0.04
R1745:Zswim9 UTSW 7 13,003,482 (GRCm39) missense probably damaging 1.00
R1938:Zswim9 UTSW 7 12,994,141 (GRCm39) nonsense probably null
R2025:Zswim9 UTSW 7 13,003,292 (GRCm39) missense probably damaging 0.98
R3149:Zswim9 UTSW 7 13,011,196 (GRCm39) missense possibly damaging 0.94
R3150:Zswim9 UTSW 7 13,011,196 (GRCm39) missense possibly damaging 0.94
R3176:Zswim9 UTSW 7 13,011,196 (GRCm39) missense possibly damaging 0.94
R3177:Zswim9 UTSW 7 13,011,196 (GRCm39) missense possibly damaging 0.94
R3276:Zswim9 UTSW 7 13,011,196 (GRCm39) missense possibly damaging 0.94
R3277:Zswim9 UTSW 7 13,011,196 (GRCm39) missense possibly damaging 0.94
R3950:Zswim9 UTSW 7 12,995,503 (GRCm39) missense possibly damaging 0.95
R4554:Zswim9 UTSW 7 13,011,088 (GRCm39) missense probably benign 0.33
R4866:Zswim9 UTSW 7 12,995,095 (GRCm39) missense probably damaging 0.99
R4953:Zswim9 UTSW 7 13,003,484 (GRCm39) missense probably damaging 1.00
R5330:Zswim9 UTSW 7 12,993,912 (GRCm39) missense probably damaging 1.00
R5394:Zswim9 UTSW 7 12,994,909 (GRCm39) missense probably damaging 1.00
R5408:Zswim9 UTSW 7 12,994,753 (GRCm39) missense possibly damaging 0.66
R5654:Zswim9 UTSW 7 12,995,094 (GRCm39) missense probably damaging 0.99
R5810:Zswim9 UTSW 7 12,994,662 (GRCm39) missense probably damaging 0.98
R5859:Zswim9 UTSW 7 12,995,371 (GRCm39) missense probably damaging 0.99
R6235:Zswim9 UTSW 7 12,995,529 (GRCm39) missense probably damaging 1.00
R6239:Zswim9 UTSW 7 12,995,257 (GRCm39) nonsense probably null
R6249:Zswim9 UTSW 7 12,994,903 (GRCm39) missense probably damaging 0.98
R6394:Zswim9 UTSW 7 12,994,889 (GRCm39) missense probably damaging 0.99
R7077:Zswim9 UTSW 7 12,993,679 (GRCm39) missense probably damaging 1.00
R7133:Zswim9 UTSW 7 12,993,664 (GRCm39) missense probably damaging 0.98
R7178:Zswim9 UTSW 7 12,993,924 (GRCm39) missense possibly damaging 0.53
R7595:Zswim9 UTSW 7 12,994,998 (GRCm39) missense probably benign 0.21
R8005:Zswim9 UTSW 7 12,995,064 (GRCm39) missense probably damaging 0.98
R8138:Zswim9 UTSW 7 12,995,337 (GRCm39) missense probably damaging 1.00
R8282:Zswim9 UTSW 7 12,995,536 (GRCm39) missense probably benign
R8818:Zswim9 UTSW 7 12,994,456 (GRCm39) missense probably benign 0.19
R9241:Zswim9 UTSW 7 13,003,360 (GRCm39) missense probably damaging 1.00
R9277:Zswim9 UTSW 7 12,994,983 (GRCm39) missense probably damaging 0.96
R9787:Zswim9 UTSW 7 12,994,205 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCTACTTGTGAGACCCTACCTTGG -3'
(R):5'- ACAAAGGTGTGTGGTCATTTGGGAC -3'

Sequencing Primer
(F):5'- TTGCAGGGCATCTAGGACC -3'
(R):5'- tttaccatacagagatgaaatgcag -3'
Posted On 2014-04-24