Incidental Mutation 'R0348:Zfhx2'
ID 36022
Institutional Source Beutler Lab
Gene Symbol Zfhx2
Ensembl Gene ENSMUSG00000040721
Gene Name zinc finger homeobox 2
Synonyms zfh-5
MMRRC Submission 038555-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R0348 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55297719-55329781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55300965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 2262 (V2262G)
Ref Sequence ENSEMBL: ENSMUSP00000045156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036328] [ENSMUST00000183822] [ENSMUST00000185121]
AlphaFold Q2MHN3
Predicted Effect probably damaging
Transcript: ENSMUST00000036328
AA Change: V2262G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: V2262G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,844,987 (GRCm39) D34G probably benign Het
Adam6a T C 12: 113,508,337 (GRCm39) S237P probably damaging Het
Adamts13 A C 2: 26,871,092 (GRCm39) D235A probably benign Het
Adgb T A 10: 10,233,623 (GRCm39) M1259L probably benign Het
Apbb1 T C 7: 105,214,510 (GRCm39) Q529R probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camta1 T C 4: 151,670,888 (GRCm39) T96A possibly damaging Het
Ccdc148 A T 2: 58,894,084 (GRCm39) probably null Het
Cep170b T C 12: 112,703,240 (GRCm39) Y568H probably damaging Het
Clca4b A T 3: 144,627,741 (GRCm39) I410N probably damaging Het
Cnot10 G A 9: 114,427,838 (GRCm39) T592I probably benign Het
Col6a3 C T 1: 90,755,771 (GRCm39) A173T probably damaging Het
Ctcf T A 8: 106,402,789 (GRCm39) C560* probably null Het
Daglb G A 5: 143,472,951 (GRCm39) V369I probably benign Het
Defb19 G A 2: 152,422,146 (GRCm39) L8F unknown Het
Emcn G T 3: 137,078,608 (GRCm39) E65* probably null Het
Etl4 G T 2: 20,782,940 (GRCm39) R753L probably damaging Het
Fam151b T C 13: 92,586,689 (GRCm39) Y248C probably benign Het
Fmo1 T C 1: 162,663,704 (GRCm39) D275G probably benign Het
Gjd4 A G 18: 9,280,964 (GRCm39) V38A possibly damaging Het
Hivep1 T C 13: 42,311,855 (GRCm39) V1365A possibly damaging Het
Hivep2 T C 10: 14,005,702 (GRCm39) S767P possibly damaging Het
Hoxa6 T C 6: 52,183,548 (GRCm39) T166A possibly damaging Het
Ift80 G T 3: 68,843,232 (GRCm39) L367I probably benign Het
Igf2bp1 T C 11: 95,859,719 (GRCm39) N369S possibly damaging Het
Igsf11 C A 16: 38,829,179 (GRCm39) D24E probably benign Het
Ints5 C T 19: 8,873,114 (GRCm39) L358F probably damaging Het
Kbtbd3 A G 9: 4,330,519 (GRCm39) T298A possibly damaging Het
Kif28 C A 1: 179,558,818 (GRCm39) V297F probably damaging Het
Krt12 T C 11: 99,308,771 (GRCm39) Y422C probably damaging Het
Lig1 T A 7: 13,043,122 (GRCm39) W856R probably damaging Het
Liph C T 16: 21,786,730 (GRCm39) probably null Het
Lrig3 T A 10: 125,849,317 (GRCm39) C1012* probably null Het
Lrit1 A G 14: 36,782,182 (GRCm39) E285G probably damaging Het
Lrrc31 A G 3: 30,743,377 (GRCm39) V196A probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Mllt10 T C 2: 18,167,424 (GRCm39) Y372H probably damaging Het
Mrpl50 A T 4: 49,514,515 (GRCm39) V52E probably damaging Het
Mthfd1l T C 10: 4,006,766 (GRCm39) V676A probably damaging Het
Ncl C T 1: 86,284,362 (GRCm39) D245N possibly damaging Het
Neil1 A T 9: 57,054,065 (GRCm39) probably null Het
Nfatc3 A G 8: 106,818,827 (GRCm39) E515G probably damaging Het
Nlrp4b A G 7: 10,449,108 (GRCm39) E70G possibly damaging Het
Nme3 A T 17: 25,115,491 (GRCm39) I2F possibly damaging Het
Nup210 G A 6: 91,051,292 (GRCm39) H364Y probably benign Het
Nxpe3 T A 16: 55,686,898 (GRCm39) T37S probably benign Het
Olfm1 T A 2: 28,102,554 (GRCm39) M76K probably benign Het
Pgbd5 A T 8: 125,160,771 (GRCm39) V32E probably damaging Het
Plcb4 T C 2: 135,810,339 (GRCm39) M646T probably damaging Het
Plekha7 G A 7: 115,757,255 (GRCm39) P565L probably damaging Het
Poc5 A G 13: 96,535,374 (GRCm39) D213G probably null Het
Poli A G 18: 70,656,452 (GRCm39) I125T probably benign Het
Ppm1f T C 16: 16,721,254 (GRCm39) M1T probably null Het
Psmd7 T C 8: 108,307,523 (GRCm39) K320R unknown Het
Rabggtb A G 3: 153,615,954 (GRCm39) V128A probably damaging Het
Rasa2 A T 9: 96,454,012 (GRCm39) L308H probably damaging Het
Serpina1d C T 12: 103,730,034 (GRCm39) V383M probably benign Het
Sipa1l1 T C 12: 82,431,530 (GRCm39) probably null Het
Sos1 T C 17: 80,715,740 (GRCm39) T1006A probably benign Het
Sugp1 T A 8: 70,522,658 (GRCm39) Y453N probably damaging Het
Taf3 A T 2: 10,047,455 (GRCm39) D64E probably benign Het
Tcf19 A T 17: 35,826,801 (GRCm39) probably null Het
Trim60 T A 8: 65,453,868 (GRCm39) H127L probably damaging Het
Tubb4a C T 17: 57,387,770 (GRCm39) V419M probably damaging Het
Vmn2r22 G T 6: 123,614,684 (GRCm39) T302K probably damaging Het
Vmn2r68 T G 7: 84,870,884 (GRCm39) T800P 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
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
R1694:Zfhx2 UTSW 14 55,311,401 (GRCm39) missense possibly damaging 0.91
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'- GGACAGTGGCTTTCAATGCTTTCAG -3'
(R):5'- AGCATCTCCTCTAGTTGCAAGCCC -3'

Sequencing Primer
(F):5'- AGGGTTGCAACTGGCTTT -3'
(R):5'- GCAAGCCCTTCATGGCTC -3'
Posted On 2013-05-09