Mutagenetix > Incidental Mutation

Incidental Mutation 'R9780:Zfhx2'

734001

Institutional Source

Beutler Lab

Gene Symbol

Zfhx2

Ensembl Gene

ENSMUSG00000040721

Gene Name

zinc finger homeobox 2

Synonyms

zfh-5

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R9780 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55297719-55329781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55312494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 67 (D67Y)

Ref Sequence

ENSEMBL: ENSMUSP00000045156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036328]

AlphaFold

Q2MHN3

Predicted Effect

probably benign
Transcript: ENSMUST00000036328
AA Change: D67Y

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: D67Y

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,911,447 (GRCm39)	T1344A	probably benign	Het
Actrt3	T	A	3: 30,652,876 (GRCm39)	I73F	probably damaging	Het
Ankrd24	T	C	10: 81,482,196 (GRCm39)	S915P	possibly damaging	Het
Ano1	A	T	7: 144,209,358 (GRCm39)	F281I	probably damaging	Het
Arhgap42	A	G	9: 9,059,102 (GRCm39)	V148A	probably benign	Het
Arnt2	A	G	7: 83,954,426 (GRCm39)	I256T	probably benign	Het
Bloc1s3	G	A	7: 19,241,408 (GRCm39)	S40L	possibly damaging	Het
Cep68	G	A	11: 20,192,142 (GRCm39)	P19L	probably benign	Het
Chst9	T	A	18: 15,586,221 (GRCm39)	Q114L	probably benign	Het
Cpa2	T	A	6: 30,545,536 (GRCm39)	F106I	probably benign	Het
Cplane1	A	G	15: 8,258,123 (GRCm39)	E2123G	probably benign	Het
Crocc	T	C	4: 140,756,556 (GRCm39)	D1187G	probably benign	Het
Dhx8	A	T	11: 101,632,403 (GRCm39)	D454V	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif3a	A	T	19: 60,766,398 (GRCm39)	L310H	probably damaging	Het
Ergic3	C	A	2: 155,853,164 (GRCm39)	Y202*	probably null	Het
Fam117a	A	T	11: 95,268,309 (GRCm39)	I237L	possibly damaging	Het
Fcsk	T	C	8: 111,613,743 (GRCm39)	M773V	probably benign	Het
Gcnt4	T	A	13: 97,083,948 (GRCm39)	S415T	probably benign	Het
Hacl1	C	A	14: 31,362,519 (GRCm39)	V43L	possibly damaging	Het
Hbb-bh2	A	G	7: 103,489,624 (GRCm39)	L4P	probably damaging	Het
Hmbs	A	G	9: 44,247,985 (GRCm39)	L357P	probably damaging	Het
Hpcal1	A	G	12: 17,836,494 (GRCm39)	Y108C	probably damaging	Het
Hspa14	A	T	2: 3,490,741 (GRCm39)	M482K	probably damaging	Het
Ifi27l2b	G	T	12: 103,417,461 (GRCm39)	P242Q	unknown	Het
Insyn1	A	G	9: 58,406,881 (GRCm39)	N264D	probably damaging	Het
Itpr1	T	C	6: 108,487,795 (GRCm39)	V2407A	probably benign	Het
Lcp1	T	C	14: 75,440,178 (GRCm39)	F154S	probably damaging	Het
Lmod2	T	C	6: 24,604,233 (GRCm39)	S403P	probably damaging	Het
Lrrc63	G	A	14: 75,360,500 (GRCm39)	A334V	probably damaging	Het
Lrriq1	T	A	10: 103,025,824 (GRCm39)	T933S	probably damaging	Het
Mga	A	G	2: 119,747,253 (GRCm39)	Y468C	probably benign	Het
Msh4	T	C	3: 153,582,342 (GRCm39)	Y510C	probably damaging	Het
Myh11	T	C	16: 14,064,613 (GRCm39)	K235R		Het
Nek2	A	T	1: 191,554,738 (GRCm39)	D150V	probably damaging	Het
Nfkbil1	C	A	17: 35,439,898 (GRCm39)	R205L	possibly damaging	Het
Nox3	A	G	17: 3,736,260 (GRCm39)	F122S	possibly damaging	Het
Nrxn1	A	G	17: 90,931,042 (GRCm39)	V718A	possibly damaging	Het
Oplah	A	G	15: 76,181,940 (GRCm39)	I1061T	probably damaging	Het
Or13e8	G	A	4: 43,697,193 (GRCm39)		probably benign	Het
Or2y16	G	A	11: 49,335,014 (GRCm39)	C112Y	possibly damaging	Het
Or51b17	A	G	7: 103,542,631 (GRCm39)	S104P	probably damaging	Het
Or9m1	A	G	2: 87,733,426 (GRCm39)	L198P	probably damaging	Het
Pcf11	A	T	7: 92,313,313 (GRCm39)	D123E	possibly damaging	Het
Pcna	C	T	2: 132,094,794 (GRCm39)	E55K	probably benign	Het
Pip5k1c	T	C	10: 81,141,030 (GRCm39)	V46A	probably benign	Het
Plce1	T	G	19: 38,609,134 (GRCm39)	L481R	possibly damaging	Het
Psma7	A	T	2: 179,678,339 (GRCm39)	Y228N	unknown	Het
Rcbtb1	T	A	14: 59,465,796 (GRCm39)	Y380N	probably benign	Het
Rin2	A	T	2: 145,718,551 (GRCm39)	E677V	probably damaging	Het
Scgb2b11	A	G	7: 31,909,861 (GRCm39)	L75P	probably damaging	Het
Scn4a	A	G	11: 106,226,235 (GRCm39)	V775A	probably damaging	Het
Setx	A	G	2: 29,016,999 (GRCm39)	D34G	possibly damaging	Het
Slc38a9	A	T	13: 112,862,591 (GRCm39)	D430V	probably damaging	Het
Snapc4	A	T	2: 26,267,019 (GRCm39)	N77K	possibly damaging	Het
Stk32a	T	G	18: 43,375,049 (GRCm39)	F20V	probably benign	Het
Taf1b	G	A	12: 24,564,818 (GRCm39)	G145D	probably damaging	Het
Tomt	G	C	7: 101,549,536 (GRCm39)	Q251E	probably benign	Het
Tsc1	G	A	2: 28,565,761 (GRCm39)	E471K	probably damaging	Het
Ttll9	G	A	2: 152,836,023 (GRCm39)	A256T	possibly damaging	Het
Ttn	A	T	2: 76,774,289 (GRCm39)	C2252S	probably benign	Het
Ttn	A	T	2: 76,785,035 (GRCm39)	D797E	unknown	Het
Usf3	T	A	16: 44,039,181 (GRCm39)	N1220K	possibly damaging	Het
Usp22	A	T	11: 61,050,069 (GRCm39)	H355Q	probably benign	Het
Virma	T	A	4: 11,513,442 (GRCm39)	V432E	possibly damaging	Het
Vtn	A	C	11: 78,393,003 (GRCm39)	D456A	probably damaging	Het
Zbbx	A	G	3: 74,945,359 (GRCm39)	S688P	probably damaging	Het
Zfp87	T	C	13: 67,665,241 (GRCm39)	H407R	probably damaging	Het

Other mutations in Zfhx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AAGCCCTTTGGTAACGAGAG -3'
(R):5'- ATGGCTACCCTTAACTCAGCC -3'

Sequencing Primer
(F):5'- ACGAGAGTTCACTGCCCCTAG -3'
(R):5'- AGCCTCTCCCTCCGGAAC -3'

Posted On

2022-11-14