Incidental Mutation 'R7698:Zfhx2'
ID 593805
Institutional Source Beutler Lab
Gene Symbol Zfhx2
Ensembl Gene ENSMUSG00000040721
Gene Name zinc finger homeobox 2
Synonyms zfh-5
MMRRC Submission 045759-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R7698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55297719-55329781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55300306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 2482 (I2482V)
Ref Sequence ENSEMBL: ENSMUSP00000045156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036328]
AlphaFold Q2MHN3
Predicted Effect probably benign
Transcript: ENSMUST00000036328
AA Change: I2482V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: I2482V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik C A 14: 33,774,570 (GRCm39) L140F unknown Het
Actn1 T C 12: 80,221,311 (GRCm39) T581A probably benign Het
Ak9 T C 10: 41,224,072 (GRCm39) L495S Het
Aldh5a1 T C 13: 25,095,731 (GRCm39) D462G probably damaging Het
Amz2 A G 11: 109,319,833 (GRCm39) D73G probably damaging Het
Ank2 A G 3: 126,825,860 (GRCm39) Y361H probably benign Het
Atp8b1 A G 18: 64,704,093 (GRCm39) Y342H probably benign Het
Atp8b5 C T 4: 43,366,735 (GRCm39) T833I probably benign Het
Camkk2 A G 5: 122,884,482 (GRCm39) I313T probably damaging Het
Cdk18 T C 1: 132,050,116 (GRCm39) T20A probably damaging Het
Cenpf A T 1: 189,394,269 (GRCm39) C479S probably benign Het
Cfap221 C A 1: 119,889,659 (GRCm39) E192* probably null Het
Cfap44 C T 16: 44,254,149 (GRCm39) H958Y probably damaging Het
Cic A T 7: 24,972,597 (GRCm39) Q776L possibly damaging Het
Cldn17 C A 16: 88,303,244 (GRCm39) G162* probably null Het
Col19a1 T A 1: 24,351,159 (GRCm39) Y748F probably benign Het
Col27a1 C T 4: 63,143,955 (GRCm39) P548S possibly damaging Het
Cracdl T G 1: 37,664,452 (GRCm39) E482A probably benign Het
Ctsr T A 13: 61,310,381 (GRCm39) M92L probably benign Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Defa34 G T 8: 22,156,645 (GRCm39) C91F probably damaging Het
Dennd2c G A 3: 103,072,359 (GRCm39) V815I possibly damaging Het
Dlgap4 C T 2: 156,591,015 (GRCm39) Q734* probably null Het
Dph1 A T 11: 75,081,267 (GRCm39) S7T probably benign Het
Dpp8 T C 9: 64,949,618 (GRCm39) V121A probably benign Het
Dst G A 1: 34,229,468 (GRCm39) G2354S probably benign Het
Duox2 A T 2: 122,111,245 (GRCm39) L1453Q probably damaging Het
Ecpas C G 4: 58,832,660 (GRCm39) C900S unknown Het
Exosc10 T A 4: 148,642,955 (GRCm39) S11T probably benign Het
Fetub A G 16: 22,758,059 (GRCm39) T281A probably benign Het
Flii A T 11: 60,610,918 (GRCm39) W504R probably damaging Het
Gm5093 T C 17: 46,750,866 (GRCm39) R54G possibly damaging Het
Gmcl1 T C 6: 86,684,397 (GRCm39) D375G probably benign Het
Hikeshi A T 7: 89,572,889 (GRCm39) N101K probably benign Het
Hmcn2 T C 2: 31,313,165 (GRCm39) V3458A probably damaging Het
Hspa2 A G 12: 76,452,083 (GRCm39) N259S possibly damaging Het
Irf6 T C 1: 192,844,075 (GRCm39) I110T probably damaging Het
Kcnj8 T A 6: 142,511,479 (GRCm39) H376L probably damaging Het
Kdm6b G A 11: 69,296,807 (GRCm39) P487S probably benign Het
Lcp1 C A 14: 75,443,651 (GRCm39) Y222* probably null Het
Manea T C 4: 26,327,763 (GRCm39) D426G probably damaging Het
Map3k20 G T 2: 72,195,025 (GRCm39) E101* probably null Het
Map3k20 C G 2: 72,268,658 (GRCm39) S555C probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myo6 C T 9: 80,124,938 (GRCm39) P6S unknown Het
Myoc A T 1: 162,467,014 (GRCm39) Q61L probably damaging Het
N4bp2 T A 5: 65,965,500 (GRCm39) M1183K probably benign Het
Or52e7 T A 7: 104,685,114 (GRCm39) H236Q probably benign Het
Or5b114-ps1 T C 19: 13,352,404 (GRCm39) F26S probably damaging Het
Or5b21 T C 19: 12,840,077 (GRCm39) S313P possibly damaging Het
Or8b40 T A 9: 38,027,188 (GRCm39) L37* probably null Het
Osbpl11 C G 16: 33,054,817 (GRCm39) N633K probably benign Het
Pate7 T C 9: 35,688,472 (GRCm39) M38V probably benign Het
Pcdhgb5 A G 18: 37,865,684 (GRCm39) E493G probably damaging Het
Phf20 T A 2: 156,136,058 (GRCm39) W626R probably damaging Het
Pkp2 C A 16: 16,058,523 (GRCm39) Q402K probably benign Het
Plch2 C T 4: 155,087,244 (GRCm39) D336N possibly damaging Het
Plk1 T C 7: 121,768,481 (GRCm39) F535L probably damaging Het
Ppp1r9a A T 6: 4,906,430 (GRCm39) E328D probably benign Het
Prss44 G A 9: 110,646,379 (GRCm39) V369M probably benign Het
Rilp A G 11: 75,401,798 (GRCm39) S193G probably benign Het
Rusc2 C T 4: 43,414,900 (GRCm39) Q69* probably null Het
Ryr2 T C 13: 11,776,201 (GRCm39) D1112G possibly damaging Het
Smc6 A G 12: 11,333,141 (GRCm39) R238G possibly damaging Het
Spen A G 4: 141,200,156 (GRCm39) S2824P probably damaging Het
Stk4 T C 2: 163,925,663 (GRCm39) M77T probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Thsd1 C T 8: 22,749,003 (GRCm39) R625* probably null Het
Tle3 A T 9: 61,320,138 (GRCm39) N522I probably damaging Het
Tmcc1 C A 6: 116,020,763 (GRCm39) E230* probably null Het
Vmn2r90 T C 17: 17,953,596 (GRCm39) S587P probably benign Het
Wt1 A T 2: 104,957,161 (GRCm39) Q7L probably benign Het
Zfpm2 A T 15: 40,959,487 (GRCm39) I189F probably benign 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
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
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'- CTTTGGCAAAAGCCACAGC -3'
(R):5'- AACCCGGTGATACCTCAGAC -3'

Sequencing Primer
(F):5'- CAGCCGGGACAGCAGTG -3'
(R):5'- GGTGATACCTCAGACCCTTATTGG -3'
Posted On 2019-11-12