Incidental Mutation 'R1879:Zfhx2'
ID 211428
Institutional Source Beutler Lab
Gene Symbol Zfhx2
Ensembl Gene ENSMUSG00000040721
Gene Name zinc finger homeobox 2
Synonyms zfh-5
MMRRC Submission 039900-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R1879 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55297719-55329781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55310206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 780 (Y780C)
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: Y780C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: Y780C

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: 97.3%
  • 3x: 96.6%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,686,488 (GRCm39) D268G possibly damaging Het
Abce1 T C 8: 80,414,085 (GRCm39) N542S probably benign Het
Abcf1 T A 17: 36,272,704 (GRCm39) E260D probably benign Het
Ahcy A G 2: 154,906,072 (GRCm39) probably null Het
Akap13 C T 7: 75,260,475 (GRCm39) A1033V probably benign Het
Alkbh6 A G 7: 30,011,320 (GRCm39) N46S probably damaging Het
Ankrd34c A C 9: 89,612,126 (GRCm39) L72V probably damaging Het
Arf4 T A 14: 26,368,076 (GRCm39) N25K probably damaging Het
Arhgef4 A G 1: 34,761,521 (GRCm39) D259G unknown Het
Cavin1 C A 11: 100,861,036 (GRCm39) G86V probably damaging Het
Ces1d G A 8: 93,916,126 (GRCm39) T167I probably benign Het
Cfb T C 17: 35,079,536 (GRCm39) I754V probably benign Het
Clcnkb C T 4: 141,135,130 (GRCm39) R536H possibly damaging Het
Clpb T G 7: 101,355,690 (GRCm39) S181R probably benign Het
Col1a1 T C 11: 94,842,051 (GRCm39) M1366T unknown Het
Cped1 T A 6: 22,085,014 (GRCm39) probably null Het
Crip1 G A 12: 113,116,952 (GRCm39) C82Y probably damaging Het
Csmd3 T C 15: 47,520,915 (GRCm39) T2810A possibly damaging Het
Cyp2b9 A T 7: 25,897,994 (GRCm39) D266V probably damaging Het
Cyp46a1 A G 12: 108,319,385 (GRCm39) D294G probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Dst A G 1: 34,227,924 (GRCm39) E1514G probably benign Het
Dync1h1 A G 12: 110,591,070 (GRCm39) E1046G probably benign Het
Eya2 T C 2: 165,506,726 (GRCm39) V4A probably benign Het
Frem3 A T 8: 81,338,567 (GRCm39) R287* probably null Het
Fuca2 T A 10: 13,383,000 (GRCm39) C323S possibly damaging Het
Ggt7 T C 2: 155,356,707 (GRCm39) E4G possibly damaging Het
Gli1 C T 10: 127,169,606 (GRCm39) R383H probably damaging Het
Gm4559 C A 7: 141,827,998 (GRCm39) V35F unknown Het
Gpm6a T A 8: 55,490,365 (GRCm39) C14S probably damaging Het
Hcn2 A T 10: 79,562,023 (GRCm39) I340F probably benign Het
Hdac9 T A 12: 34,440,332 (GRCm39) D349V probably damaging Het
Krt34 T C 11: 99,929,118 (GRCm39) D364G possibly damaging Het
Mon2 C T 10: 122,838,790 (GRCm39) R1565H probably damaging Het
Myb T A 10: 21,017,876 (GRCm39) M482L probably benign Het
Nckap1l A T 15: 103,373,028 (GRCm39) I294F probably benign Het
Nr2e1 A G 10: 42,444,367 (GRCm39) probably null Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or1r1 T A 11: 73,875,368 (GRCm39) D22V probably benign Het
Or4k38 A T 2: 111,165,808 (GRCm39) I205N possibly damaging Het
Or52h7 T C 7: 104,214,118 (GRCm39) V230A possibly damaging Het
Pde8b A T 13: 95,221,723 (GRCm39) I308N possibly damaging Het
Pdzd2 T C 15: 12,373,986 (GRCm39) R2050G possibly damaging Het
Phc3 C A 3: 30,968,607 (GRCm39) S840I probably damaging Het
Piezo2 T A 18: 63,247,031 (GRCm39) Y327F probably damaging Het
Pnliprp1 A T 19: 58,732,516 (GRCm39) I460F probably benign Het
Pphln1 T G 15: 93,321,927 (GRCm39) D35E probably damaging Het
Prdm6 G A 18: 53,701,289 (GRCm39) V360I probably damaging Het
Rab35 T A 5: 115,778,219 (GRCm39) W62R probably damaging Het
Sct G T 7: 140,858,612 (GRCm39) P70Q probably damaging Het
Sdf4 A G 4: 156,094,304 (GRCm39) N328S probably damaging Het
Senp5 A T 16: 31,802,642 (GRCm39) S488R probably damaging Het
Serpina3n A G 12: 104,375,213 (GRCm39) E95G probably benign Het
Sfswap C T 5: 129,618,392 (GRCm39) A442V probably benign Het
Sgcd T C 11: 47,246,068 (GRCm39) I45V probably benign Het
Sgcg T C 14: 61,474,346 (GRCm39) probably null Het
Slc39a12 G T 2: 14,448,868 (GRCm39) V489L probably benign Het
Slc5a11 T A 7: 122,838,671 (GRCm39) I96N possibly damaging Het
Slc6a12 A G 6: 121,324,382 (GRCm39) D2G probably damaging Het
Slc8a1 T C 17: 81,955,442 (GRCm39) D532G probably damaging Het
Smarcd3 C A 5: 24,798,019 (GRCm39) C465F probably damaging Het
Smc1b T A 15: 84,976,268 (GRCm39) Q813L probably benign Het
Spag1 G A 15: 36,181,916 (GRCm39) E25K probably damaging Het
Sptan1 A T 2: 29,885,540 (GRCm39) N715I probably damaging Het
Tas1r2 T A 4: 139,397,006 (GRCm39) Y782N probably damaging Het
Thap3 A T 4: 152,067,593 (GRCm39) C162S probably benign Het
Topaz1 T A 9: 122,578,684 (GRCm39) D531E possibly damaging Het
Vmn1r25 C T 6: 57,955,912 (GRCm39) A126T possibly damaging Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Zfp956 A T 6: 47,940,678 (GRCm39) T346S probably benign Het
Zkscan1 C T 5: 138,095,410 (GRCm39) A219V probably 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
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 55,303,074 (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'- TTTTCTTCGTGGGCTGAACC -3'
(R):5'- ATCTGCCACCAAGTCAGCTC -3'

Sequencing Primer
(F):5'- TGAACCCCGGGTGTGCAG -3'
(R):5'- TGTGCCAGGCTTTCAGC -3'
Posted On 2014-06-30