Incidental Mutation 'R0533:Zfhx2'
ID 49342
Institutional Source Beutler Lab
Gene Symbol Zfhx2
Ensembl Gene ENSMUSG00000040721
Gene Name zinc finger homeobox 2
Synonyms zfh-5
MMRRC Submission 038725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R0533 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55060262-55092324 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55064090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 2146 (V2146I)
Ref Sequence ENSEMBL: ENSMUSP00000045156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036328] [ENSMUST00000183822] [ENSMUST00000185121]
AlphaFold Q2MHN3
Predicted Effect probably benign
Transcript: ENSMUST00000036328
AA Change: V2146I

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: V2146I

DomainStartEndE-ValueType
low complexity region 22 42 N/A INTRINSIC
ZnF_C2H2 230 252 1.43e1 SMART
low complexity region 333 345 N/A INTRINSIC
low complexity region 428 439 N/A INTRINSIC
ZnF_C2H2 446 469 8.94e-3 SMART
ZnF_U1 498 532 6.98e-1 SMART
ZnF_C2H2 501 525 3.21e-4 SMART
ZnF_U1 560 594 1.36e0 SMART
ZnF_C2H2 563 587 3.29e-1 SMART
low complexity region 597 623 N/A INTRINSIC
ZnF_C2H2 752 776 6.4e0 SMART
ZnF_C2H2 815 839 2.02e-1 SMART
ZnF_U1 861 895 1.78e1 SMART
ZnF_C2H2 864 888 5.34e-1 SMART
ZnF_C2H2 974 997 1.51e1 SMART
ZnF_C2H2 1003 1026 1.51e0 SMART
low complexity region 1087 1103 N/A INTRINSIC
low complexity region 1106 1126 N/A INTRINSIC
ZnF_U1 1182 1216 3.42e0 SMART
ZnF_C2H2 1185 1209 8.22e-2 SMART
ZnF_U1 1239 1273 3.73e0 SMART
ZnF_C2H2 1242 1266 6.67e-2 SMART
low complexity region 1277 1304 N/A INTRINSIC
low complexity region 1314 1326 N/A INTRINSIC
low complexity region 1332 1346 N/A INTRINSIC
low complexity region 1349 1359 N/A INTRINSIC
low complexity region 1379 1400 N/A INTRINSIC
low complexity region 1457 1465 N/A INTRINSIC
ZnF_C2H2 1474 1497 5.34e0 SMART
low complexity region 1522 1531 N/A INTRINSIC
low complexity region 1542 1554 N/A INTRINSIC
low complexity region 1562 1583 N/A INTRINSIC
HOX 1589 1651 1.97e-16 SMART
low complexity region 1656 1665 N/A INTRINSIC
coiled coil region 1693 1723 N/A INTRINSIC
ZnF_C2H2 1761 1783 2.53e-2 SMART
low complexity region 1837 1847 N/A INTRINSIC
HOX 1851 1913 2.34e-18 SMART
low complexity region 1984 1995 N/A INTRINSIC
low complexity region 2001 2051 N/A INTRINSIC
HOX 2058 2120 1.52e-17 SMART
ZnF_U1 2136 2170 1.09e1 SMART
ZnF_C2H2 2139 2163 5.4e1 SMART
low complexity region 2328 2354 N/A INTRINSIC
low complexity region 2385 2426 N/A INTRINSIC
ZnF_U1 2482 2516 8.31e-1 SMART
ZnF_C2H2 2485 2509 9.46e0 SMART
low complexity region 2523 2538 N/A INTRINSIC
low complexity region 2553 2562 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176665
SMART Domains Protein: ENSMUSP00000134955
Gene: ENSMUSG00000040721

DomainStartEndE-ValueType
ZnF_C2H2 13 37 5.34e-1 SMART
ZnF_C2H2 133 156 1.51e1 SMART
ZnF_C2H2 162 185 1.51e0 SMART
low complexity region 246 262 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
ZnF_C2H2 344 368 8.22e-2 SMART
ZnF_C2H2 401 425 6.67e-2 SMART
low complexity region 436 463 N/A INTRINSIC
low complexity region 473 485 N/A INTRINSIC
low complexity region 491 505 N/A INTRINSIC
low complexity region 508 518 N/A INTRINSIC
low complexity region 538 559 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183822
SMART Domains Protein: ENSMUSP00000140371
Gene: ENSMUSG00000045691

DomainStartEndE-ValueType
PDB:2JMU|A 5 64 3e-23 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185121
Meta Mutation Damage Score 0.1764 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T G 8: 60,531,763 (GRCm38) probably benign Het
Abcb1b A T 5: 8,864,113 (GRCm38) probably null Het
Adcy10 A G 1: 165,564,023 (GRCm38) N1283S probably benign Het
Adgrb1 T A 15: 74,541,559 (GRCm38) W531R probably damaging Het
Ago4 A G 4: 126,516,860 (GRCm38) V246A probably benign Het
Arid5b A T 10: 68,186,033 (GRCm38) D242E probably damaging Het
Arpp21 A G 9: 112,126,505 (GRCm38) V522A probably benign Het
Atg4b T A 1: 93,784,910 (GRCm38) probably benign Het
Capn12 T C 7: 28,887,683 (GRCm38) F359S possibly damaging Het
Ccdc88c A T 12: 100,954,282 (GRCm38) I360N probably damaging Het
Clic3 A G 2: 25,458,138 (GRCm38) Y99C probably damaging Het
Cux1 T C 5: 136,307,859 (GRCm38) E925G probably damaging Het
Dnah10 G A 5: 124,775,250 (GRCm38) probably null Het
Dnah17 A G 11: 118,110,537 (GRCm38) V860A possibly damaging Het
Etv5 C T 16: 22,436,075 (GRCm38) probably benign Het
Fam83a T A 15: 58,009,811 (GRCm38) N345K probably benign Het
G3bp1 T C 11: 55,498,626 (GRCm38) F383L probably damaging Het
Gpm6a A G 8: 55,055,374 (GRCm38) probably null Het
Grid1 T A 14: 35,309,385 (GRCm38) Y312N possibly damaging Het
Gstm4 T C 3: 108,043,525 (GRCm38) N51S probably benign Het
Hid1 A T 11: 115,348,809 (GRCm38) I765N probably damaging Het
Hmmr A G 11: 40,709,989 (GRCm38) V518A unknown Het
Itgb6 A G 2: 60,669,197 (GRCm38) V84A probably benign Het
Kbtbd4 A G 2: 90,907,604 (GRCm38) K233E probably benign Het
Kif15 A T 9: 123,009,433 (GRCm38) probably benign Het
Klre1 T C 6: 129,583,193 (GRCm38) S143P probably damaging Het
Krt81 T C 15: 101,461,389 (GRCm38) D216G probably benign Het
Mctp2 G T 7: 72,080,822 (GRCm38) H868Q probably benign Het
Morc2b G C 17: 33,135,932 (GRCm38) Y955* probably null Het
Myog A C 1: 134,290,473 (GRCm38) N140H possibly damaging Het
Myrf G C 19: 10,218,162 (GRCm38) T428S probably benign Het
Naip2 A C 13: 100,161,782 (GRCm38) I582S probably benign Het
Neil3 A T 8: 53,638,775 (GRCm38) probably null Het
Nrg1 T C 8: 31,831,245 (GRCm38) probably null Het
Or1o4 A T 17: 37,280,291 (GRCm38) L43* probably null Het
Or56a3b G A 7: 105,122,350 (GRCm38) V298I probably benign Het
Or56b35 A T 7: 105,314,372 (GRCm38) M123L probably benign Het
Pramel16 A T 4: 143,950,720 (GRCm38) D96E possibly damaging Het
Pramel23 G T 4: 143,698,020 (GRCm38) C284* probably null Het
Ptger2 T A 14: 44,988,982 (GRCm38) N6K possibly damaging Het
Ryr1 T A 7: 29,078,780 (GRCm38) E2097V probably damaging Het
Sel1l A T 12: 91,820,094 (GRCm38) F397Y probably damaging Het
Skint5 A G 4: 113,827,867 (GRCm38) V551A unknown Het
Slc39a12 A G 2: 14,400,331 (GRCm38) T245A probably benign Het
Syne1 C T 10: 5,358,438 (GRCm38) V706I probably benign Het
Tbc1d8 G T 1: 39,372,774 (GRCm38) Q994K possibly damaging Het
Tnrc6b C T 15: 80,876,653 (GRCm38) T187I probably benign Het
Ttll6 G A 11: 96,154,756 (GRCm38) A600T probably benign Het
Ust T C 10: 8,248,080 (GRCm38) probably benign Het
Vmn2r71 GT GTT 7: 85,619,218 (GRCm38) probably null Het
Vstm2a C T 11: 16,263,041 (GRCm38) A142V probably damaging Het
Wfs1 T A 5: 36,973,722 (GRCm38) probably benign Het
Wrap73 G A 4: 154,156,154 (GRCm38) V368M possibly damaging Het
Wrap73 G A 4: 154,151,649 (GRCm38) G145D probably damaging Het
Xrra1 T A 7: 99,875,145 (GRCm38) probably null Het
Zfp335 A T 2: 164,907,922 (GRCm38) L185* probably null Het
Other mutations in Zfhx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Zfhx2 APN 14 55,066,565 (GRCm38) missense possibly damaging 0.93
IGL00164:Zfhx2 APN 14 55,065,026 (GRCm38) missense possibly damaging 0.73
IGL00235:Zfhx2 APN 14 55,063,257 (GRCm38) missense probably benign 0.11
IGL00925:Zfhx2 APN 14 55,073,061 (GRCm38) missense probably benign 0.06
IGL01025:Zfhx2 APN 14 55,064,260 (GRCm38) missense probably damaging 1.00
IGL01061:Zfhx2 APN 14 55,073,882 (GRCm38) missense possibly damaging 0.96
IGL01486:Zfhx2 APN 14 55,067,090 (GRCm38) missense probably damaging 1.00
IGL01875:Zfhx2 APN 14 55,063,915 (GRCm38) missense unknown
IGL01990:Zfhx2 APN 14 55,073,590 (GRCm38) missense probably damaging 0.99
IGL02097:Zfhx2 APN 14 55,062,894 (GRCm38) missense probably damaging 1.00
IGL02269:Zfhx2 APN 14 55,071,936 (GRCm38) missense probably benign 0.00
IGL02488:Zfhx2 APN 14 55,065,103 (GRCm38) missense possibly damaging 0.72
IGL02624:Zfhx2 APN 14 55,066,628 (GRCm38) missense probably benign 0.06
IGL03087:Zfhx2 APN 14 55,072,845 (GRCm38) missense possibly damaging 0.85
G1patch:Zfhx2 UTSW 14 55,064,082 (GRCm38) nonsense probably null
PIT4403001:Zfhx2 UTSW 14 55,074,980 (GRCm38) missense probably benign
R0148:Zfhx2 UTSW 14 55,072,897 (GRCm38) missense possibly damaging 0.86
R0323:Zfhx2 UTSW 14 55,065,979 (GRCm38) missense possibly damaging 0.73
R0328:Zfhx2 UTSW 14 55,071,988 (GRCm38) missense probably benign
R0348:Zfhx2 UTSW 14 55,063,508 (GRCm38) missense probably damaging 0.99
R0442:Zfhx2 UTSW 14 55,066,900 (GRCm38) missense possibly damaging 0.53
R0561:Zfhx2 UTSW 14 55,065,889 (GRCm38) missense probably benign 0.01
R0627:Zfhx2 UTSW 14 55,065,327 (GRCm38) missense probably benign
R0659:Zfhx2 UTSW 14 55,073,801 (GRCm38) missense possibly damaging 0.73
R0675:Zfhx2 UTSW 14 55,063,163 (GRCm38) missense probably damaging 0.99
R1301:Zfhx2 UTSW 14 55,063,397 (GRCm38) missense probably benign 0.32
R1563:Zfhx2 UTSW 14 55,065,088 (GRCm38) missense probably benign 0.33
R1607:Zfhx2 UTSW 14 55,062,985 (GRCm38) missense probably damaging 1.00
R1694:Zfhx2 UTSW 14 55,073,944 (GRCm38) missense possibly damaging 0.91
R1710:Zfhx2 UTSW 14 55,065,998 (GRCm38) missense possibly damaging 0.70
R1773:Zfhx2 UTSW 14 55,072,891 (GRCm38) missense possibly damaging 0.53
R1879:Zfhx2 UTSW 14 55,072,749 (GRCm38) missense possibly damaging 0.96
R1879:Zfhx2 UTSW 14 55,065,617 (GRCm38) missense probably benign 0.32
R1933:Zfhx2 UTSW 14 55,075,238 (GRCm38) start gained probably benign
R1944:Zfhx2 UTSW 14 55,074,732 (GRCm38) missense probably benign 0.18
R2888:Zfhx2 UTSW 14 55,064,803 (GRCm38) missense possibly damaging 0.71
R2889:Zfhx2 UTSW 14 55,064,803 (GRCm38) missense possibly damaging 0.71
R2915:Zfhx2 UTSW 14 55,064,557 (GRCm38) missense probably damaging 0.98
R3971:Zfhx2 UTSW 14 55,074,475 (GRCm38) missense probably benign 0.33
R4082:Zfhx2 UTSW 14 55,065,205 (GRCm38) missense probably benign
R4134:Zfhx2 UTSW 14 55,065,143 (GRCm38) missense possibly damaging 0.93
R4231:Zfhx2 UTSW 14 55,073,534 (GRCm38) missense possibly damaging 0.73
R4675:Zfhx2 UTSW 14 55,067,221 (GRCm38) missense probably benign 0.03
R4764:Zfhx2 UTSW 14 55,066,915 (GRCm38) missense possibly damaging 0.96
R4866:Zfhx2 UTSW 14 55,065,536 (GRCm38) missense possibly damaging 0.73
R4940:Zfhx2 UTSW 14 55,066,434 (GRCm38) missense possibly damaging 0.53
R5125:Zfhx2 UTSW 14 55,074,775 (GRCm38) missense probably benign 0.00
R5178:Zfhx2 UTSW 14 55,074,775 (GRCm38) missense probably benign 0.00
R5554:Zfhx2 UTSW 14 55,064,317 (GRCm38) missense probably damaging 1.00
R5689:Zfhx2 UTSW 14 55,073,903 (GRCm38) missense possibly damaging 0.53
R5768:Zfhx2 UTSW 14 55,074,365 (GRCm38) missense probably benign
R5792:Zfhx2 UTSW 14 55,066,846 (GRCm38) missense possibly damaging 0.72
R5834:Zfhx2 UTSW 14 55,073,330 (GRCm38) nonsense probably null
R5895:Zfhx2 UTSW 14 55,065,891 (GRCm38) missense probably benign
R5999:Zfhx2 UTSW 14 55,074,005 (GRCm38) missense probably benign
R6025:Zfhx2 UTSW 14 55,065,208 (GRCm38) missense probably benign 0.00
R6106:Zfhx2 UTSW 14 55,068,310 (GRCm38) critical splice acceptor site probably null
R6135:Zfhx2 UTSW 14 55,074,196 (GRCm38) missense possibly damaging 0.85
R6186:Zfhx2 UTSW 14 55,063,160 (GRCm38) missense probably damaging 0.99
R6379:Zfhx2 UTSW 14 55,074,338 (GRCm38) missense probably benign
R6725:Zfhx2 UTSW 14 55,064,082 (GRCm38) nonsense probably null
R7089:Zfhx2 UTSW 14 55,065,772 (GRCm38) missense probably benign 0.33
R7383:Zfhx2 UTSW 14 55,068,253 (GRCm38) missense probably benign 0.00
R7470:Zfhx2 UTSW 14 55,066,750 (GRCm38) missense possibly damaging 0.52
R7606:Zfhx2 UTSW 14 55,066,663 (GRCm38) missense probably benign 0.12
R7607:Zfhx2 UTSW 14 55,066,231 (GRCm38) missense possibly damaging 0.86
R7698:Zfhx2 UTSW 14 55,062,849 (GRCm38) missense probably benign 0.00
R7730:Zfhx2 UTSW 14 55,066,900 (GRCm38) missense possibly damaging 0.53
R8142:Zfhx2 UTSW 14 55,073,438 (GRCm38) missense possibly damaging 0.86
R8188:Zfhx2 UTSW 14 55,064,441 (GRCm38) missense probably benign 0.18
R8212:Zfhx2 UTSW 14 55,072,916 (GRCm38) missense possibly damaging 0.70
R8264:Zfhx2 UTSW 14 55,065,512 (GRCm38) missense possibly damaging 0.53
R8331:Zfhx2 UTSW 14 55,071,987 (GRCm38) missense probably benign 0.00
R8369:Zfhx2 UTSW 14 55,066,744 (GRCm38) missense probably benign 0.05
R8371:Zfhx2 UTSW 14 55,064,092 (GRCm38) missense probably damaging 0.99
R8383:Zfhx2 UTSW 14 55,074,071 (GRCm38) missense possibly damaging 0.73
R8415:Zfhx2 UTSW 14 55,070,622 (GRCm38) missense probably benign
R8441:Zfhx2 UTSW 14 55,066,528 (GRCm38) missense possibly damaging 0.96
R8466:Zfhx2 UTSW 14 55,072,896 (GRCm38) missense possibly damaging 0.53
R8504:Zfhx2 UTSW 14 55,065,786 (GRCm38) missense probably benign 0.00
R8708:Zfhx2 UTSW 14 55,075,052 (GRCm38) missense probably benign
R8804:Zfhx2 UTSW 14 55,074,734 (GRCm38) missense probably benign 0.18
R8913:Zfhx2 UTSW 14 55,072,086 (GRCm38) missense probably benign 0.02
R8952:Zfhx2 UTSW 14 55,072,750 (GRCm38) missense possibly damaging 0.86
R9057:Zfhx2 UTSW 14 55,072,570 (GRCm38) missense possibly damaging 0.53
R9060:Zfhx2 UTSW 14 55,074,346 (GRCm38) missense probably benign 0.00
R9197:Zfhx2 UTSW 14 55,074,722 (GRCm38) nonsense probably null
R9622:Zfhx2 UTSW 14 55,066,026 (GRCm38) missense probably benign 0.18
R9623:Zfhx2 UTSW 14 55,064,734 (GRCm38) missense probably damaging 0.98
R9775:Zfhx2 UTSW 14 55,067,105 (GRCm38) missense probably benign 0.01
R9780:Zfhx2 UTSW 14 55,075,037 (GRCm38) missense probably benign 0.02
X0065:Zfhx2 UTSW 14 55,066,960 (GRCm38) missense probably benign 0.33
Z1088:Zfhx2 UTSW 14 55,074,180 (GRCm38) missense possibly damaging 0.73
Z1177:Zfhx2 UTSW 14 55,066,982 (GRCm38) missense possibly damaging 0.70
Z1177:Zfhx2 UTSW 14 55,065,920 (GRCm38) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- AGATGCTCTCTCAAGCCTAGCTCC -3'
(R):5'- GAAAGCCTGCTATGAAGCCTACCG -3'

Sequencing Primer
(F):5'- AGAAGCTATGCTTCCAAGTGGTG -3'
(R):5'- CCTACTATGCAGGAGTGTGAAGTC -3'
Posted On 2013-06-12