Mutagenetix > Incidental Mutation

Incidental Mutation 'R5792:Zfhx2'

447045

Institutional Source

Beutler Lab

Gene Symbol

Zfhx2

Ensembl Gene

ENSMUSG00000040721

Gene Name

zinc finger homeobox 2

Synonyms

zfh-5

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R5792 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

55297719-55329781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55304303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1227 (E1227G)

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: E1227G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: E1227G

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

Meta Mutation Damage Score

0.1168

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (56/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,945 (GRCm39)	I296F	possibly damaging	Het
Adamts19	C	T	18: 58,970,584 (GRCm39)	T56M	possibly damaging	Het
Axdnd1	T	G	1: 156,169,459 (GRCm39)	E802D	probably damaging	Het
Birc6	T	C	17: 74,938,048 (GRCm39)	V2630A	probably benign	Het
Capn5	A	T	7: 97,780,402 (GRCm39)	F323I	probably benign	Het
Ccn1	T	C	3: 145,354,413 (GRCm39)	D166G	probably benign	Het
Cdc25b	A	G	2: 131,033,679 (GRCm39)	E206G	probably damaging	Het
Cmah	T	G	13: 24,640,898 (GRCm39)	N382K	probably benign	Het
Col11a1	A	T	3: 113,925,242 (GRCm39)	D25V	probably damaging	Het
Cyp2d41-ps	G	T	15: 82,663,421 (GRCm39)		noncoding transcript	Het
Cyp3a59	A	G	5: 146,036,661 (GRCm39)	K288E	possibly damaging	Het
Dclre1a	A	C	19: 56,518,022 (GRCm39)	I1019S	probably damaging	Het
Fat2	G	T	11: 55,153,151 (GRCm39)	A3687D	possibly damaging	Het
Flg2	T	A	3: 93,110,804 (GRCm39)	V944E	unknown	Het
Galntl5	T	C	5: 25,403,461 (GRCm39)	V177A	possibly damaging	Het
Gm12695	T	C	4: 96,616,520 (GRCm39)	T438A	probably benign	Het
Gm14295	A	T	2: 176,502,807 (GRCm39)	N766Y	probably benign	Het
Gm15433	T	A	1: 84,941,833 (GRCm39)		noncoding transcript	Het
Gm2431	C	T	7: 141,812,069 (GRCm39)	G8E	unknown	Het
Gm5435	T	A	12: 82,542,200 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grip1	T	C	10: 119,821,385 (GRCm39)	I350T	probably benign	Het
Guf1	T	A	5: 69,717,829 (GRCm39)	F196I	probably damaging	Het
Kcng4	G	T	8: 120,353,018 (GRCm39)	D297E	probably damaging	Het
Khdrbs2	G	A	1: 32,511,773 (GRCm39)	R246Q	probably damaging	Het
Layn	T	C	9: 50,979,461 (GRCm39)	E148G	probably damaging	Het
Lrig3	T	A	10: 125,845,788 (GRCm39)	V739E	probably damaging	Het
Lyg1	A	G	1: 37,986,348 (GRCm39)	W129R	probably benign	Het
Nup210l	C	T	3: 90,107,164 (GRCm39)	T1567I	probably damaging	Het
Nus1	T	A	10: 52,305,352 (GRCm39)	L12*	probably null	Het
Odad2	T	C	18: 7,217,965 (GRCm39)	N583S	probably benign	Het
Or1n2	A	G	2: 36,797,113 (GRCm39)	I52V	probably benign	Het
Or6a2	A	T	7: 106,600,650 (GRCm39)	V139D	possibly damaging	Het
Otop1	A	G	5: 38,455,260 (GRCm39)	N218S	probably benign	Het
Pcif1	T	A	2: 164,727,299 (GRCm39)	N90K	probably damaging	Het
Phf2	T	C	13: 48,973,518 (GRCm39)		probably null	Het
Piezo2	T	A	18: 63,279,927 (GRCm39)	I215F	probably damaging	Het
Pitpnm2	G	T	5: 124,268,384 (GRCm39)	C553*	probably null	Het
Prdm1	A	G	10: 44,326,224 (GRCm39)	V115A	probably damaging	Het
Prkdc	A	G	16: 15,634,616 (GRCm39)	D3587G	probably damaging	Het
Sez6l	A	T	5: 112,569,890 (GRCm39)	Y883*	probably null	Het
Sh3rf2	A	C	18: 42,244,203 (GRCm39)	H223P	probably damaging	Het
Slco1a5	C	T	6: 142,187,839 (GRCm39)	C500Y	probably damaging	Het
Slf1	T	A	13: 77,214,856 (GRCm39)	H610L	probably benign	Het
Syn3	T	C	10: 86,130,492 (GRCm39)	*244W	probably null	Het
Sytl2	A	T	7: 90,024,897 (GRCm39)	D295V	probably damaging	Het
Tnfrsf1a	T	A	6: 125,335,040 (GRCm39)	C44S	probably damaging	Het
Ttc6	T	G	12: 57,719,990 (GRCm39)	L854V	possibly damaging	Het
Ttn	T	C	2: 76,596,602 (GRCm39)	I18358V	probably benign	Het
Vmn2r108	A	G	17: 20,683,398 (GRCm39)	V602A	probably damaging	Het
Zap70	A	G	1: 36,818,090 (GRCm39)		probably benign	Het
Znhit3	G	A	11: 84,806,910 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,442,236 (GRCm39)		probably benign	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
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'- GTCAGGGCCTTTCTTCTCAG -3'
(R):5'- CAAACTTTGCCCTGGACAAG -3'

Sequencing Primer
(F):5'- AGGGCCTTTCTTCTCAGTACCTG -3'
(R):5'- GCCCTGGACAAGTTTCTTGAC -3'

Posted On

2016-12-15