Mutagenetix > Incidental Mutation

Incidental Mutation 'R8188:Zfhx2'

634997

Institutional Source

Beutler Lab

Gene Symbol

Zfhx2

Ensembl Gene

ENSMUSG00000040721

Gene Name

zinc finger homeobox 2

Synonyms

zfh-5

MMRRC Submission

067611-MU

Accession Numbers

Essential gene?

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

Stock #

R8188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55297719-55329781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55301898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2029 (S2029T)

Ref Sequence

ENSEMBL: ENSMUSP00000045156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036328] [ENSMUST00000183822] [ENSMUST00000185121]

AlphaFold

Q2MHN3

Predicted Effect

probably benign
Transcript: ENSMUST00000036328
AA Change: S2029T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: S2029T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183822

SMART Domains

Protein: ENSMUSP00000140371
Gene: ENSMUSG00000045691

Domain	Start	End	E-Value	Type
PDB:2JMU\|A	5	64	3e-23	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185121

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	G	4: 40,180,284 (GRCm39)	A395G	probably benign	Het
Adgrf5	G	A	17: 43,741,503 (GRCm39)	C380Y	probably damaging	Het
Astn2	T	C	4: 65,977,418 (GRCm39)	T422A	unknown	Het
Baz1b	G	T	5: 135,233,916 (GRCm39)	V148F	probably benign	Het
Bicd1	A	C	6: 149,451,854 (GRCm39)	S823R	probably damaging	Het
Bltp3b	C	T	10: 89,647,928 (GRCm39)	T1330M	possibly damaging	Het
Blvra	A	C	2: 126,937,047 (GRCm39)	S167R	probably damaging	Het
Camsap2	G	T	1: 136,225,132 (GRCm39)		probably null	Het
Card14	T	C	11: 119,228,623 (GRCm39)	S650P	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,993 (GRCm39)	D180G	possibly damaging	Het
Cdh2	A	G	18: 16,781,593 (GRCm39)	I166T	probably damaging	Het
Cdnf	T	C	2: 3,514,228 (GRCm39)	V22A	probably benign	Het
Cfhr4	T	A	1: 139,625,868 (GRCm39)	I869F	probably damaging	Het
Chd2	T	A	7: 73,079,504 (GRCm39)	K1799*	probably null	Het
Col20a1	G	A	2: 180,658,126 (GRCm39)		probably null	Het
Cyp4a31	T	C	4: 115,426,943 (GRCm39)	I182T	probably benign	Het
Dap3	A	T	3: 88,843,543 (GRCm39)	F25L	probably benign	Het
Dcc	T	A	18: 71,943,928 (GRCm39)	Y241F	probably benign	Het
Ddx46	A	G	13: 55,814,029 (GRCm39)	I662V	possibly damaging	Het
Dzip3	T	C	16: 48,772,499 (GRCm39)	D390G	probably damaging	Het
Eif1	A	G	11: 100,211,624 (GRCm39)	D55G	probably benign	Het
Exosc5	T	A	7: 25,358,790 (GRCm39)	S44T	probably damaging	Het
Fat2	A	G	11: 55,163,997 (GRCm39)	V3086A	probably damaging	Het
Fcamr	T	A	1: 130,730,665 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,309,004 (GRCm39)	D50G	probably damaging	Het
Gm7298	A	G	6: 121,763,537 (GRCm39)		probably null	Het
Hfe	A	G	13: 23,892,175 (GRCm39)	V63A	probably damaging	Het
Hoxd11	T	A	2: 74,514,298 (GRCm39)	I276N	probably damaging	Het
Htt	T	C	5: 34,919,287 (GRCm39)	S13P	probably benign	Het
Il12a	T	A	3: 68,598,872 (GRCm39)	C18S	unknown	Het
Itk	G	T	11: 46,222,776 (GRCm39)	Y564*	probably null	Het
Lrrc46	A	T	11: 96,931,705 (GRCm39)	L39Q	probably damaging	Het
Myom3	T	A	4: 135,507,231 (GRCm39)	L537Q	probably damaging	Het
Nrap	A	C	19: 56,325,010 (GRCm39)	Y1234*	probably null	Het
Or51q1	T	C	7: 103,628,743 (GRCm39)	S121P	probably damaging	Het
Or8b9	A	T	9: 37,766,407 (GRCm39)	M98L	probably benign	Het
Parn	T	C	16: 13,359,020 (GRCm39)	D574G	probably benign	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pclo	T	A	5: 14,725,193 (GRCm39)	S1350R	unknown	Het
Pira13	T	C	7: 3,826,126 (GRCm39)	H289R	unknown	Het
Plaa	T	C	4: 94,474,586 (GRCm39)	Q272R	probably damaging	Het
Rfx6	T	A	10: 51,594,292 (GRCm39)	I174N	probably benign	Het
Ripk2	T	A	4: 16,139,218 (GRCm39)	K226N	probably damaging	Het
Scgb1b2	T	C	7: 30,990,946 (GRCm39)	D54G	possibly damaging	Het
Slc45a4	T	C	15: 73,456,383 (GRCm39)	Y599C	probably benign	Het
Slc7a13	T	C	4: 19,819,082 (GRCm39)	V94A	probably benign	Het
Slc7a8	A	G	14: 54,972,579 (GRCm39)	F281L	probably benign	Het
Slco4c1	T	A	1: 96,772,261 (GRCm39)	T243S	probably damaging	Het
Smim30	C	T	6: 13,870,541 (GRCm39)	G57E	probably damaging	Het
Stat5b	A	G	11: 100,692,262 (GRCm39)	I174T	probably damaging	Het
Styk1	C	A	6: 131,281,848 (GRCm39)	V257L	probably benign	Het
Tmem268	T	C	4: 63,498,209 (GRCm39)	F210L	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vps50	T	A	6: 3,562,297 (GRCm39)	L464*	probably null	Het
Zfp235	T	A	7: 23,841,296 (GRCm39)	F572I	probably damaging	Het
Zfp280d	T	C	9: 72,267,615 (GRCm39)	I766T	probably benign	Het
Zfr	T	G	15: 12,171,904 (GRCm39)	C933W	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
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'- TGGAACCAGACCTGAATGACTC -3'
(R):5'- CATTCCTACCACCTGGGAAAG -3'

Sequencing Primer
(F):5'- GACTTCACACTCCTGCATAGTAGGG -3'
(R):5'- TACCACCTGGGAAAGAGGCC -3'

Posted On

2020-07-13