Incidental Mutation 'R4231:Zfhx2'
ID 320877
Institutional Source Beutler Lab
Gene Symbol Zfhx2
Ensembl Gene ENSMUSG00000040721
Gene Name zinc finger homeobox 2
Synonyms zfh-5
MMRRC Submission 041050-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R4231 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55297719-55329781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55310991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 568 (C568R)
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: C568R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: C568R

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
Meta Mutation Damage Score 0.5461 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 A T 12: 53,187,821 (GRCm39) D1745V probably damaging Het
Aldh5a1 C T 13: 25,095,636 (GRCm39) G494R probably damaging Het
Ankar T C 1: 72,697,701 (GRCm39) D1034G probably benign Het
Aox3 T A 1: 58,154,044 (GRCm39) N23K probably benign Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Bltp1 C T 3: 36,974,385 (GRCm39) T663I probably benign Het
Cacnb2 A G 2: 14,986,251 (GRCm39) K343E probably damaging Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cd93 A T 2: 148,284,880 (GRCm39) H155Q probably benign Het
Cox6b2 T C 7: 4,755,834 (GRCm39) M1V probably null Het
Crat T C 2: 30,303,023 (GRCm39) E88G possibly damaging Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dip2a G A 10: 76,155,304 (GRCm39) P94S probably damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Filip1l T C 16: 57,327,131 (GRCm39) S54P probably benign Het
Gm12887 A T 4: 121,479,299 (GRCm39) M1K probably null Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Insyn2b A T 11: 34,353,143 (GRCm39) E395V probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Irak2 A G 6: 113,667,817 (GRCm39) E466G probably damaging Het
Irgm2 C T 11: 58,110,304 (GRCm39) probably benign Het
Jak3 T A 8: 72,138,189 (GRCm39) V880D probably damaging Het
Jmy G T 13: 93,635,433 (GRCm39) P128T probably benign Het
Kif20a A G 18: 34,765,091 (GRCm39) N775S probably benign Het
Kremen1 G A 11: 5,193,881 (GRCm39) Q50* probably null Het
Lrrc71 A G 3: 87,648,298 (GRCm39) I438T probably benign Het
Map3k1 T C 13: 111,905,028 (GRCm39) T374A probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mta1 T C 12: 113,099,447 (GRCm39) M603T possibly damaging Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Nalcn T A 14: 123,837,325 (GRCm39) Q13L probably benign Het
Nbas A G 12: 13,443,344 (GRCm39) N1133S probably damaging Het
Nsun2 A G 13: 69,767,660 (GRCm39) N205D probably damaging Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or4f17-ps1 C T 2: 111,358,546 (GRCm39) R314C probably damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A G 1: 97,811,849 (GRCm39) probably null Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Plxna2 C T 1: 194,326,762 (GRCm39) T232I probably damaging Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Ptprq A T 10: 107,522,144 (GRCm39) Y602* probably null Het
Rfx4 A T 10: 84,650,558 (GRCm39) M84L probably benign Het
Rfx7 A T 9: 72,526,672 (GRCm39) E1287D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf216 A T 5: 143,078,845 (GRCm39) S35T probably damaging Het
Rps6kc1 A G 1: 190,541,097 (GRCm39) V402A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sart3 A G 5: 113,909,479 (GRCm39) M73T probably benign Het
Scn10a G T 9: 119,460,610 (GRCm39) T1088K probably damaging Het
Senp2 T C 16: 21,830,304 (GRCm39) probably null Het
Setd7 T C 3: 51,450,151 (GRCm39) N92D probably benign Het
Sipa1 A T 19: 5,704,117 (GRCm39) L735Q probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slitrk6 A T 14: 110,988,820 (GRCm39) S296T probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tex15 T C 8: 34,062,165 (GRCm39) S806P probably damaging Het
Tgm3 A T 2: 129,886,509 (GRCm39) K577* probably null Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Xpo6 T C 7: 125,773,354 (GRCm39) T24A possibly damaging Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null 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 55,310,206 (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
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'- CCCAAAGTACTGGAAGAGTTCAG -3'
(R):5'- CTACAACTGCGGCTACAAGC -3'

Sequencing Primer
(F):5'- TACTGGAAGAGTTCAGGAGGGTTG -3'
(R):5'- GCTGCGATGTCTGCAACTAC -3'
Posted On 2015-06-12