Mutagenetix > Incidental Mutation

Incidental Mutation 'R5768:Zfhx2'

446399

Institutional Source

Beutler Lab

Gene Symbol

Zfhx2

Ensembl Gene

ENSMUSG00000040721

Gene Name

zinc finger homeobox 2

Synonyms

zfh-5

MMRRC Submission

043368-MU

Accession Numbers

Essential gene?

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

Stock #

R5768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55297719-55329781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55311822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 291 (T291A)

Ref Sequence

ENSEMBL: ENSMUSP00000045156 (fasta)

Gene Model

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

AlphaFold

Q2MHN3

Predicted Effect

probably benign
Transcript: ENSMUST00000036328
AA Change: T291A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: T291A

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: ENSMUST00000176665

SMART Domains

Protein: ENSMUSP00000134955
Gene: ENSMUSG00000040721

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185430

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,177,426 (GRCm39)	T561I	probably benign	Het
Akp3	T	C	1: 87,054,844 (GRCm39)	I393T	probably damaging	Het
Atxn10	A	T	15: 85,277,621 (GRCm39)	I363F	probably benign	Het
BC004004	A	T	17: 29,501,709 (GRCm39)	S83C	probably damaging	Het
Bin1	T	A	18: 32,559,264 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,674,641 (GRCm39)	I541T	probably damaging	Het
Cand1	A	G	10: 119,046,910 (GRCm39)	V860A	probably benign	Het
Ccdc69	T	C	11: 54,945,856 (GRCm39)	N50S	possibly damaging	Het
Cd209d	T	A	8: 3,921,968 (GRCm39)	T235S	probably benign	Het
Cdhr3	G	T	12: 33,096,685 (GRCm39)	T591K	possibly damaging	Het
Cherp	C	T	8: 73,216,957 (GRCm39)	D658N	probably damaging	Het
Clip4	T	A	17: 72,113,494 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,492,242 (GRCm39)	V195M	probably damaging	Het
Cst11	A	T	2: 148,612,387 (GRCm39)	Y83*	probably null	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Ddi2	A	T	4: 141,412,901 (GRCm39)	L4M	probably damaging	Het
Dip2b	C	A	15: 100,055,826 (GRCm39)	P393T	probably benign	Het
Dnmt3a	G	A	12: 3,935,660 (GRCm39)		probably null	Het
Elf5	C	T	2: 103,279,367 (GRCm39)	S196L	probably damaging	Het
Eps15	C	G	4: 109,220,373 (GRCm39)		probably null	Het
Fra10ac1	T	C	19: 38,195,734 (GRCm39)	E163G	probably benign	Het
Gc	T	C	5: 89,589,125 (GRCm39)	T213A	probably damaging	Het
Grpel1	A	T	5: 36,622,503 (GRCm39)		probably benign	Het
Gsdme	G	A	6: 50,196,280 (GRCm39)	Q377*	probably null	Het
Hira	T	C	16: 18,753,768 (GRCm39)		probably benign	Het
Hsd11b1	T	A	1: 192,922,554 (GRCm39)	I168F	probably damaging	Het
Htr6	G	A	4: 138,789,015 (GRCm39)	R347W	probably damaging	Het
Ipp	A	C	4: 116,367,967 (GRCm39)	T67P	probably damaging	Het
Lrfn5	G	A	12: 61,886,509 (GRCm39)	R99Q	probably benign	Het
Madd	T	A	2: 90,998,174 (GRCm39)	I649F	probably damaging	Het
Map2k7	T	A	8: 4,295,757 (GRCm39)	D368E	probably benign	Het
Mppe1	T	G	18: 67,358,889 (GRCm39)	T360P	possibly damaging	Het
Msi2	A	G	11: 88,608,564 (GRCm39)	F2L	probably damaging	Het
Nectin3	T	C	16: 46,279,180 (GRCm39)	Q266R	probably damaging	Het
Nfasc	T	C	1: 132,532,883 (GRCm39)	H691R	probably benign	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or4c117	T	C	2: 88,955,793 (GRCm39)	E94G	probably benign	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Papss2	G	A	19: 32,638,119 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,172,736 (GRCm39)	K549E	probably benign	Het
Plekha6	A	G	1: 133,208,116 (GRCm39)	T596A	probably benign	Het
Polr2f	A	G	15: 79,035,845 (GRCm39)	D117G	probably damaging	Het
Psd	T	C	19: 46,301,178 (GRCm39)	E381G	possibly damaging	Het
Rfx6	G	A	10: 51,602,976 (GRCm39)	R831H	probably damaging	Het
Rpp25l	A	T	4: 41,712,649 (GRCm39)	L42Q	probably damaging	Het
Ryr3	T	C	2: 112,583,442 (GRCm39)	M2810V	probably benign	Het
Sdk1	C	A	5: 142,129,626 (GRCm39)	L1616I	probably benign	Het
Spock2	T	A	10: 59,962,029 (GRCm39)	F215I	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tchh	A	T	3: 93,353,488 (GRCm39)	E976V	unknown	Het
Tgfbr3	T	C	5: 107,297,761 (GRCm39)	E213G	probably benign	Het
Tmed1	T	C	9: 21,420,619 (GRCm39)	D71G	probably benign	Het
Tmtc4	T	A	14: 123,170,565 (GRCm39)	K527N	possibly 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
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'- ACTGGCGAATCTTTGGCTTG -3'
(R):5'- CACAGGGCGATGTTTTGGATC -3'

Sequencing Primer
(F):5'- CGAATCTTTGGCTTGGGTTG -3'
(R):5'- CGATGTTTTGGATCTGCCTTC -3'

Posted On

2016-11-21