Incidental Mutation 'R1694:Zfhx2'
ID 192061
Institutional Source Beutler Lab
Gene Symbol Zfhx2
Ensembl Gene ENSMUSG00000040721
Gene Name zinc finger homeobox 2
Synonyms zfh-5
MMRRC Submission 039727-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R1694 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55297719-55329781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 55311401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 431 (S431C)
Ref Sequence ENSEMBL: ENSMUSP00000045156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036328] [ENSMUST00000183822] [ENSMUST00000185121]
AlphaFold Q2MHN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000036328
AA Change: S431C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: S431C

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: ENSMUST00000185430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185121
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik T C 10: 120,614,533 (GRCm39) probably benign Het
4930447C04Rik C T 12: 72,931,992 (GRCm39) probably null Het
Abca16 A G 7: 120,119,307 (GRCm39) H1017R probably damaging Het
Actl11 A G 9: 107,807,207 (GRCm39) Y510C probably damaging Het
Agbl2 A G 2: 90,631,664 (GRCm39) T341A probably damaging Het
Agbl5 A G 5: 31,050,726 (GRCm39) Y458C probably damaging Het
Akap5 C T 12: 76,376,698 (GRCm39) S710L probably damaging Het
Akr1c21 A G 13: 4,625,177 (GRCm39) E36G probably damaging Het
Arhgap44 A G 11: 64,944,023 (GRCm39) S163P probably damaging Het
Armc1 A G 3: 19,189,050 (GRCm39) V205A possibly damaging Het
Asph A G 4: 9,610,869 (GRCm39) L102P probably damaging Het
Brca1 T C 11: 101,422,925 (GRCm39) E74G probably damaging Het
Brms1l A G 12: 55,888,385 (GRCm39) R58G probably damaging Het
C1qbp G T 11: 70,869,073 (GRCm39) probably null Het
Calcrl A T 2: 84,169,631 (GRCm39) L350H probably damaging Het
Casr A T 16: 36,315,953 (GRCm39) F706I probably damaging Het
Ceacam10 T A 7: 24,480,491 (GRCm39) N87K probably benign Het
Cfap206 G T 4: 34,719,058 (GRCm39) T316K probably damaging Het
Col4a3 A T 1: 82,668,384 (GRCm39) probably null Het
Comtd1 A G 14: 21,897,398 (GRCm39) V183A probably damaging Het
Crygs A T 16: 22,625,425 (GRCm39) probably null Het
Dact1 C A 12: 71,359,551 (GRCm39) T139K probably damaging Het
Dlx6 T C 6: 6,867,173 (GRCm39) W259R probably damaging Het
Dnah9 G T 11: 65,845,650 (GRCm39) S627* probably null Het
Dnajc11 T A 4: 152,063,730 (GRCm39) V442D probably damaging Het
Dnajc21 A T 15: 10,451,649 (GRCm39) S393T probably benign Het
Dpysl3 C A 18: 43,461,439 (GRCm39) C584F possibly damaging Het
Efcab14 A G 4: 115,603,736 (GRCm39) K138R possibly damaging Het
Ephb3 A G 16: 21,040,495 (GRCm39) E577G probably damaging Het
Exoc3 C T 13: 74,338,184 (GRCm39) probably null Het
Fam171a1 A G 2: 3,226,660 (GRCm39) S473G probably benign Het
Fbxl2 A T 9: 113,832,239 (GRCm39) F58L probably damaging Het
Fmo6 T C 1: 162,750,241 (GRCm39) M272V probably benign Het
Gm10000 T C 12: 104,442,859 (GRCm39) probably benign Het
Grik1 T A 16: 87,746,956 (GRCm39) D442V probably damaging Het
Hectd1 A G 12: 51,791,375 (GRCm39) Y2588H probably damaging Het
Insrr A C 3: 87,711,369 (GRCm39) T430P probably benign Het
Lats1 T C 10: 7,577,709 (GRCm39) S278P probably benign Het
Lrch4 A G 5: 137,636,723 (GRCm39) T463A probably benign Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Lyst T G 13: 13,835,746 (GRCm39) F1809L probably damaging Het
Mad2l1bp A G 17: 46,463,770 (GRCm39) Y85H possibly damaging Het
Magoh G T 4: 107,740,362 (GRCm39) R82L probably benign Het
Mdfic2 A C 6: 98,215,100 (GRCm39) S174R probably damaging Het
Mlh1 A G 9: 111,057,543 (GRCm39) V756A probably damaging Het
Mlh3 T C 12: 85,313,915 (GRCm39) E757G probably damaging Het
Mycbp2 T C 14: 103,464,947 (GRCm39) T1339A probably damaging Het
Myh7b A T 2: 155,455,113 (GRCm39) E46V probably damaging Het
Naalad2 T A 9: 18,238,683 (GRCm39) R677S probably damaging Het
Nadsyn1 G A 7: 143,361,749 (GRCm39) T324I probably benign Het
Neo1 A T 9: 58,787,886 (GRCm39) L1389Q probably damaging Het
Nlrp1b A G 11: 71,107,681 (GRCm39) probably null Het
Nup210 A C 6: 91,039,785 (GRCm39) I690S probably benign Het
Or55b3 A T 7: 102,126,547 (GRCm39) S177T probably benign Het
Or5an11 T A 19: 12,246,281 (GRCm39) I229N probably damaging Het
Or9r7 T A 10: 129,962,123 (GRCm39) I268F possibly damaging Het
Otud7a C A 7: 63,383,458 (GRCm39) H316N probably damaging Het
Pcdh15 T C 10: 74,429,995 (GRCm39) S1241P probably damaging Het
Pclo A G 5: 14,570,977 (GRCm39) K121E probably damaging Het
Pcmtd1 A T 1: 7,217,872 (GRCm39) I107L probably benign Het
Pde6c A G 19: 38,168,673 (GRCm39) I755V probably damaging Het
Pes1 CGGAGGAGGAGGAGGAGGAGGAGG CGGAGGAGGAGGAGGAGGAGG 11: 3,927,719 (GRCm39) probably benign Het
Pi4ka A T 16: 17,113,240 (GRCm39) I1532N probably damaging Het
Pla2r1 A G 2: 60,271,428 (GRCm39) probably null Het
Plb1 A G 5: 32,474,621 (GRCm39) N661S probably null Het
Plekhd1 A G 12: 80,769,095 (GRCm39) K452E possibly damaging Het
Prr12 C A 7: 44,678,003 (GRCm39) V2003F unknown Het
Ptger1 G A 8: 84,395,107 (GRCm39) G195R probably benign Het
Ptpn4 T C 1: 119,711,240 (GRCm39) Q67R probably damaging Het
Rgsl1 C T 1: 153,680,422 (GRCm39) R760H probably damaging Het
Rock1 A G 18: 10,136,094 (GRCm39) probably null Het
Rtn1 T C 12: 72,270,298 (GRCm39) Y71C probably damaging Het
Rtp4 T C 16: 23,431,870 (GRCm39) *62Q probably null Het
Scaf4 GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 16: 90,026,745 (GRCm39) probably benign Het
Scimp G T 11: 70,684,618 (GRCm39) P78H probably damaging Het
Scn8a C A 15: 100,853,409 (GRCm39) S132* probably null Het
Set A G 2: 29,959,436 (GRCm39) I124M probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sgce A G 6: 4,689,709 (GRCm39) S375P probably damaging Het
Slc4a1ap G C 5: 31,701,098 (GRCm39) E600Q probably damaging Het
Slit1 A G 19: 41,626,031 (GRCm39) V577A possibly damaging Het
Sqstm1 A G 11: 50,098,307 (GRCm39) V153A probably benign Het
Src A G 2: 157,311,675 (GRCm39) M468V possibly damaging Het
Srrm3 A G 5: 135,902,079 (GRCm39) probably benign Het
Stk11ip C T 1: 75,504,030 (GRCm39) R257W probably damaging Het
Tfrc T A 16: 32,433,443 (GRCm39) D32E probably damaging Het
Tor1aip2 A T 1: 155,941,031 (GRCm39) I446L probably benign Het
Trmt11 T C 10: 30,411,221 (GRCm39) H424R probably benign Het
Urb1 A G 16: 90,563,928 (GRCm39) Y1612H probably benign Het
Vcan A T 13: 89,836,602 (GRCm39) S2981T probably damaging Het
Vdac1 G C 11: 52,265,190 (GRCm39) G21A probably damaging Het
Vmn2r76 A G 7: 85,879,356 (GRCm39) S315P probably benign Het
Xpo1 A G 11: 23,231,399 (GRCm39) T328A probably benign Het
Xrcc5 C T 1: 72,358,255 (GRCm39) L197F possibly damaging Het
Zfp410 C T 12: 84,372,494 (GRCm39) P54S probably benign Het
Zfp560 C A 9: 20,259,282 (GRCm39) G527* probably null Het
Zfp775 A G 6: 48,596,389 (GRCm39) T88A possibly damaging Het
Zfp780b T A 7: 27,663,808 (GRCm39) H249L possibly damaging Het
Other mutations in Zfhx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Zfhx2 APN 14 55,304,022 (GRCm39) missense possibly damaging 0.93
IGL00164:Zfhx2 APN 14 55,302,483 (GRCm39) missense possibly damaging 0.73
IGL00235:Zfhx2 APN 14 55,300,714 (GRCm39) missense probably benign 0.11
IGL00925:Zfhx2 APN 14 55,310,518 (GRCm39) missense probably benign 0.06
IGL01025:Zfhx2 APN 14 55,301,717 (GRCm39) missense probably damaging 1.00
IGL01061:Zfhx2 APN 14 55,311,339 (GRCm39) missense possibly damaging 0.96
IGL01486:Zfhx2 APN 14 55,304,547 (GRCm39) missense probably damaging 1.00
IGL01875:Zfhx2 APN 14 55,301,372 (GRCm39) missense unknown
IGL01990:Zfhx2 APN 14 55,311,047 (GRCm39) missense probably damaging 0.99
IGL02097:Zfhx2 APN 14 55,300,351 (GRCm39) missense probably damaging 1.00
IGL02269:Zfhx2 APN 14 55,309,393 (GRCm39) missense probably benign 0.00
IGL02488:Zfhx2 APN 14 55,302,560 (GRCm39) missense possibly damaging 0.72
IGL02624:Zfhx2 APN 14 55,304,085 (GRCm39) missense probably benign 0.06
IGL03087:Zfhx2 APN 14 55,310,302 (GRCm39) missense possibly damaging 0.85
G1patch:Zfhx2 UTSW 14 55,301,539 (GRCm39) nonsense probably null
PIT4403001:Zfhx2 UTSW 14 55,312,437 (GRCm39) missense probably benign
R0148:Zfhx2 UTSW 14 55,310,354 (GRCm39) missense possibly damaging 0.86
R0323:Zfhx2 UTSW 14 55,303,436 (GRCm39) missense possibly damaging 0.73
R0328:Zfhx2 UTSW 14 55,309,445 (GRCm39) missense probably benign
R0348:Zfhx2 UTSW 14 55,300,965 (GRCm39) missense probably damaging 0.99
R0442:Zfhx2 UTSW 14 55,304,357 (GRCm39) missense possibly damaging 0.53
R0533:Zfhx2 UTSW 14 55,301,547 (GRCm39) missense probably benign 0.23
R0561:Zfhx2 UTSW 14 55,303,346 (GRCm39) missense probably benign 0.01
R0627:Zfhx2 UTSW 14 55,302,784 (GRCm39) missense probably benign
R0659:Zfhx2 UTSW 14 55,311,258 (GRCm39) missense possibly damaging 0.73
R0675:Zfhx2 UTSW 14 55,300,620 (GRCm39) missense probably damaging 0.99
R1301:Zfhx2 UTSW 14 55,300,854 (GRCm39) missense probably benign 0.32
R1563:Zfhx2 UTSW 14 55,302,545 (GRCm39) missense probably benign 0.33
R1607:Zfhx2 UTSW 14 55,300,442 (GRCm39) missense probably damaging 1.00
R1710:Zfhx2 UTSW 14 55,303,455 (GRCm39) missense possibly damaging 0.70
R1773:Zfhx2 UTSW 14 55,310,348 (GRCm39) missense possibly damaging 0.53
R1879:Zfhx2 UTSW 14 55,310,206 (GRCm39) missense possibly damaging 0.96
R1879:Zfhx2 UTSW 14 55,303,074 (GRCm39) missense probably benign 0.32
R1933:Zfhx2 UTSW 14 55,312,695 (GRCm39) start gained probably benign
R1944:Zfhx2 UTSW 14 55,312,189 (GRCm39) missense probably benign 0.18
R2888:Zfhx2 UTSW 14 55,302,260 (GRCm39) missense possibly damaging 0.71
R2889:Zfhx2 UTSW 14 55,302,260 (GRCm39) missense possibly damaging 0.71
R2915:Zfhx2 UTSW 14 55,302,014 (GRCm39) missense probably damaging 0.98
R3971:Zfhx2 UTSW 14 55,311,932 (GRCm39) missense probably benign 0.33
R4082:Zfhx2 UTSW 14 55,302,662 (GRCm39) missense probably benign
R4134:Zfhx2 UTSW 14 55,302,600 (GRCm39) missense possibly damaging 0.93
R4231:Zfhx2 UTSW 14 55,310,991 (GRCm39) missense possibly damaging 0.73
R4675:Zfhx2 UTSW 14 55,304,678 (GRCm39) missense probably benign 0.03
R4764:Zfhx2 UTSW 14 55,304,372 (GRCm39) missense possibly damaging 0.96
R4866:Zfhx2 UTSW 14 55,302,993 (GRCm39) missense possibly damaging 0.73
R4940:Zfhx2 UTSW 14 55,303,891 (GRCm39) missense possibly damaging 0.53
R5125:Zfhx2 UTSW 14 55,312,232 (GRCm39) missense probably benign 0.00
R5178:Zfhx2 UTSW 14 55,312,232 (GRCm39) missense probably benign 0.00
R5554:Zfhx2 UTSW 14 55,301,774 (GRCm39) missense probably damaging 1.00
R5689:Zfhx2 UTSW 14 55,311,360 (GRCm39) missense possibly damaging 0.53
R5768:Zfhx2 UTSW 14 55,311,822 (GRCm39) missense probably benign
R5792:Zfhx2 UTSW 14 55,304,303 (GRCm39) missense possibly damaging 0.72
R5834:Zfhx2 UTSW 14 55,310,787 (GRCm39) nonsense probably null
R5895:Zfhx2 UTSW 14 55,303,348 (GRCm39) missense probably benign
R5999:Zfhx2 UTSW 14 55,311,462 (GRCm39) missense probably benign
R6025:Zfhx2 UTSW 14 55,302,665 (GRCm39) missense probably benign 0.00
R6106:Zfhx2 UTSW 14 55,305,767 (GRCm39) critical splice acceptor site probably null
R6135:Zfhx2 UTSW 14 55,311,653 (GRCm39) missense possibly damaging 0.85
R6186:Zfhx2 UTSW 14 55,300,617 (GRCm39) missense probably damaging 0.99
R6379:Zfhx2 UTSW 14 55,311,795 (GRCm39) missense probably benign
R6725:Zfhx2 UTSW 14 55,301,539 (GRCm39) nonsense probably null
R7089:Zfhx2 UTSW 14 55,303,229 (GRCm39) missense probably benign 0.33
R7383:Zfhx2 UTSW 14 55,305,710 (GRCm39) missense probably benign 0.00
R7470:Zfhx2 UTSW 14 55,304,207 (GRCm39) missense possibly damaging 0.52
R7606:Zfhx2 UTSW 14 55,304,120 (GRCm39) missense probably benign 0.12
R7607:Zfhx2 UTSW 14 55,303,688 (GRCm39) missense possibly damaging 0.86
R7698:Zfhx2 UTSW 14 55,300,306 (GRCm39) missense probably benign 0.00
R7730:Zfhx2 UTSW 14 55,304,357 (GRCm39) missense possibly damaging 0.53
R8142:Zfhx2 UTSW 14 55,310,895 (GRCm39) missense possibly damaging 0.86
R8188:Zfhx2 UTSW 14 55,301,898 (GRCm39) missense probably benign 0.18
R8212:Zfhx2 UTSW 14 55,310,373 (GRCm39) missense possibly damaging 0.70
R8264:Zfhx2 UTSW 14 55,302,969 (GRCm39) missense possibly damaging 0.53
R8331:Zfhx2 UTSW 14 55,309,444 (GRCm39) missense probably benign 0.00
R8369:Zfhx2 UTSW 14 55,304,201 (GRCm39) missense probably benign 0.05
R8371:Zfhx2 UTSW 14 55,301,549 (GRCm39) missense probably damaging 0.99
R8383:Zfhx2 UTSW 14 55,311,528 (GRCm39) missense possibly damaging 0.73
R8415:Zfhx2 UTSW 14 55,308,079 (GRCm39) missense probably benign
R8441:Zfhx2 UTSW 14 55,303,985 (GRCm39) missense possibly damaging 0.96
R8466:Zfhx2 UTSW 14 55,310,353 (GRCm39) missense possibly damaging 0.53
R8504:Zfhx2 UTSW 14 55,303,243 (GRCm39) missense probably benign 0.00
R8708:Zfhx2 UTSW 14 55,312,509 (GRCm39) missense probably benign
R8804:Zfhx2 UTSW 14 55,312,191 (GRCm39) missense probably benign 0.18
R8913:Zfhx2 UTSW 14 55,309,543 (GRCm39) missense probably benign 0.02
R8952:Zfhx2 UTSW 14 55,310,207 (GRCm39) missense possibly damaging 0.86
R9057:Zfhx2 UTSW 14 55,310,027 (GRCm39) missense possibly damaging 0.53
R9060:Zfhx2 UTSW 14 55,311,803 (GRCm39) missense probably benign 0.00
R9197:Zfhx2 UTSW 14 55,312,179 (GRCm39) nonsense probably null
R9622:Zfhx2 UTSW 14 55,303,483 (GRCm39) missense probably benign 0.18
R9623:Zfhx2 UTSW 14 55,302,191 (GRCm39) missense probably damaging 0.98
R9775:Zfhx2 UTSW 14 55,304,562 (GRCm39) missense probably benign 0.01
R9780:Zfhx2 UTSW 14 55,312,494 (GRCm39) missense probably benign 0.02
X0065:Zfhx2 UTSW 14 55,304,417 (GRCm39) missense probably benign 0.33
Z1088:Zfhx2 UTSW 14 55,311,637 (GRCm39) missense possibly damaging 0.73
Z1177:Zfhx2 UTSW 14 55,304,439 (GRCm39) missense possibly damaging 0.70
Z1177:Zfhx2 UTSW 14 55,303,377 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- TAGTTGCAGACATCGCAGCGGTAG -3'
(R):5'- GCCAAAGATTCGCCAGTACCAAGAG -3'

Sequencing Primer
(F):5'- TAGGGCTTGTAGCCGCAG -3'
(R):5'- TTCCCTGAGGGGCAGGAAG -3'
Posted On 2014-05-14