Mutagenetix > Incidental Mutations

Incidental Mutation 'R6135:Zfhx2'

488311

Institutional Source

Beutler Lab

Gene Symbol

Zfhx2

Ensembl Gene

ENSMUSG00000040721

Gene Name

zinc finger homeobox 2

Synonyms

zfh-5

MMRRC Submission

044282-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

R6135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55060262-55092324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55074196 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 347 (D347G)

Ref Sequence

ENSEMBL: ENSMUSP00000045156 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036328
AA Change: D347G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045156
Gene: ENSMUSG00000040721
AA Change: D347G

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: ENSMUST00000185430

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,254,216	E95G	probably damaging	Het
Abca4	C	T	3: 122,138,447	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,969,121	R375H	probably benign	Het
Aimp1	T	C	3: 132,672,083	K174E	probably benign	Het
Aire	A	G	10: 78,042,967	L82P	probably damaging	Het
Akap13	T	A	7: 75,609,908	V760D	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Carf	C	T	1: 60,147,963	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,554,850	M172K	probably benign	Het
Chpt1	A	T	10: 88,482,283	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,474,268	D65N	possibly damaging	Het
Cnga3	G	A	1: 37,232,237		probably benign	Het
Col14a1	A	G	15: 55,380,850	T440A	unknown	Het
Creb3l3	A	G	10: 81,085,718	I331T	probably benign	Het
Cul9	T	C	17: 46,521,453	T1410A	probably benign	Het
Dnm1	T	A	2: 32,333,063		probably null	Het
Fhl5	A	T	4: 25,214,716	Y20*	probably null	Het
Fignl1	T	C	11: 11,802,557	D166G	probably benign	Het
Ghr	T	C	15: 3,325,965	I279V	probably benign	Het
Gm1979	T	G	5: 26,000,300	S180R	probably damaging	Het
Hydin	T	C	8: 110,462,660	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,501,620		probably null	Het
Inpp5d	A	G	1: 87,620,397		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnh2	T	A	5: 24,321,793	S1002C	probably damaging	Het
Krt83	T	A	15: 101,487,534	E319V	probably damaging	Het
Lbp	A	G	2: 158,317,549	I201V	probably benign	Het
Man1a2	G	A	3: 100,684,932		probably benign	Het
Myh8	A	G	11: 67,297,500	T996A	possibly damaging	Het
Nat10	A	G	2: 103,743,316	L319P	probably damaging	Het
Nelfa	A	G	5: 33,899,276		probably null	Het
Olfr1447	A	C	19: 12,901,439	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,005,817	N166K	probably damaging	Het
Pcdha6	C	A	18: 36,969,216	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,573,540	D91G	possibly damaging	Het
Pigp	A	G	16: 94,370,206	F22L	probably benign	Het
Pnpla8	A	C	12: 44,282,887	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,315,909	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,857,569	D645G	probably damaging	Het
Rnf213	G	A	11: 119,442,028	V2688I	probably benign	Het
Rnf43	A	G	11: 87,732,125	H557R	probably damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Rrp9	G	A	9: 106,483,022	D210N	probably damaging	Het
Scin	G	T	12: 40,079,808	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,703,900	H477L	probably benign	Het
Slc26a8	A	T	17: 28,669,940	M195K	probably benign	Het
Spata13	A	G	14: 60,756,428	K1110E	probably damaging	Het
Spata24	T	A	18: 35,660,450	E103V	probably damaging	Het
Srek1	T	C	13: 103,774,386	N25S	probably damaging	Het
Strada	T	C	11: 106,173,314	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,736,005	W1143R	probably damaging	Het
Trip12	A	T	1: 84,760,838	D765E	probably benign	Het
Ttbk2	G	A	2: 120,750,317	R444C	probably damaging	Het
Ush2a	T	A	1: 188,912,106	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,689,926	E2500K	probably benign	Het
Vps16	A	G	2: 130,438,653	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,971,711	H2719L	probably damaging	Het
Zfp653	G	A	9: 22,058,262	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 11,065,986	H325Q	probably benign	Het

Other mutations in Zfhx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Zfhx2	APN	14	55066565	missense	possibly damaging	0.93
IGL00164:Zfhx2	APN	14	55065026	missense	possibly damaging	0.73
IGL00235:Zfhx2	APN	14	55063257	missense	probably benign	0.11
IGL00925:Zfhx2	APN	14	55073061	missense	probably benign	0.06
IGL01025:Zfhx2	APN	14	55064260	missense	probably damaging	1.00
IGL01061:Zfhx2	APN	14	55073882	missense	possibly damaging	0.96
IGL01486:Zfhx2	APN	14	55067090	missense	probably damaging	1.00
IGL01875:Zfhx2	APN	14	55063915	missense	unknown
IGL01990:Zfhx2	APN	14	55073590	missense	probably damaging	0.99
IGL02097:Zfhx2	APN	14	55062894	missense	probably damaging	1.00
IGL02269:Zfhx2	APN	14	55071936	missense	probably benign	0.00
IGL02488:Zfhx2	APN	14	55065103	missense	possibly damaging	0.72
IGL02624:Zfhx2	APN	14	55066628	missense	probably benign	0.06
IGL03087:Zfhx2	APN	14	55072845	missense	possibly damaging	0.85
PIT4403001:Zfhx2	UTSW	14	55074980	missense	probably benign
R0148:Zfhx2	UTSW	14	55072897	missense	possibly damaging	0.86
R0323:Zfhx2	UTSW	14	55065979	missense	possibly damaging	0.73
R0328:Zfhx2	UTSW	14	55071988	missense	probably benign
R0348:Zfhx2	UTSW	14	55063508	missense	probably damaging	0.99
R0442:Zfhx2	UTSW	14	55066900	missense	possibly damaging	0.53
R0533:Zfhx2	UTSW	14	55064090	missense	probably benign	0.23
R0561:Zfhx2	UTSW	14	55065889	missense	probably benign	0.01
R0627:Zfhx2	UTSW	14	55065327	missense	probably benign
R0659:Zfhx2	UTSW	14	55073801	missense	possibly damaging	0.73
R0675:Zfhx2	UTSW	14	55063163	missense	probably damaging	0.99
R1301:Zfhx2	UTSW	14	55063397	missense	probably benign	0.32
R1563:Zfhx2	UTSW	14	55065088	missense	probably benign	0.33
R1607:Zfhx2	UTSW	14	55062985	missense	probably damaging	1.00
R1694:Zfhx2	UTSW	14	55073944	missense	possibly damaging	0.91
R1710:Zfhx2	UTSW	14	55065998	missense	possibly damaging	0.70
R1773:Zfhx2	UTSW	14	55072891	missense	possibly damaging	0.53
R1879:Zfhx2	UTSW	14	55065617	missense	probably benign	0.32
R1879:Zfhx2	UTSW	14	55072749	missense	possibly damaging	0.96
R1933:Zfhx2	UTSW	14	55075238	start gained	probably benign
R1944:Zfhx2	UTSW	14	55074732	missense	probably benign	0.18
R2888:Zfhx2	UTSW	14	55064803	missense	possibly damaging	0.71
R2889:Zfhx2	UTSW	14	55064803	missense	possibly damaging	0.71
R2915:Zfhx2	UTSW	14	55064557	missense	probably damaging	0.98
R3971:Zfhx2	UTSW	14	55074475	missense	probably benign	0.33
R4082:Zfhx2	UTSW	14	55065205	missense	probably benign
R4134:Zfhx2	UTSW	14	55065143	missense	possibly damaging	0.93
R4231:Zfhx2	UTSW	14	55073534	missense	possibly damaging	0.73
R4675:Zfhx2	UTSW	14	55067221	missense	probably benign	0.03
R4764:Zfhx2	UTSW	14	55066915	missense	possibly damaging	0.96
R4866:Zfhx2	UTSW	14	55065536	missense	possibly damaging	0.73
R4940:Zfhx2	UTSW	14	55066434	missense	possibly damaging	0.53
R5125:Zfhx2	UTSW	14	55074775	missense	probably benign	0.00
R5178:Zfhx2	UTSW	14	55074775	missense	probably benign	0.00
R5554:Zfhx2	UTSW	14	55064317	missense	probably damaging	1.00
R5689:Zfhx2	UTSW	14	55073903	missense	possibly damaging	0.53
R5768:Zfhx2	UTSW	14	55074365	missense	probably benign
R5792:Zfhx2	UTSW	14	55066846	missense	possibly damaging	0.72
R5834:Zfhx2	UTSW	14	55073330	nonsense	probably null
R5895:Zfhx2	UTSW	14	55065891	missense	probably benign
R5999:Zfhx2	UTSW	14	55074005	missense	probably benign
R6025:Zfhx2	UTSW	14	55065208	missense	probably benign	0.00
R6106:Zfhx2	UTSW	14	55068310	critical splice acceptor site	probably null
R6186:Zfhx2	UTSW	14	55063160	missense	probably damaging	0.99
R6379:Zfhx2	UTSW	14	55074338	missense	probably benign
R6725:Zfhx2	UTSW	14	55064082	nonsense	probably null
R7089:Zfhx2	UTSW	14	55065772	missense	probably benign	0.33
R7383:Zfhx2	UTSW	14	55068253	missense	probably benign	0.00
R7470:Zfhx2	UTSW	14	55066750	missense	possibly damaging	0.52
R7606:Zfhx2	UTSW	14	55066663	missense	probably benign	0.12
R7607:Zfhx2	UTSW	14	55066231	missense	possibly damaging	0.86
R7698:Zfhx2	UTSW	14	55062849	missense	probably benign	0.00
R7730:Zfhx2	UTSW	14	55066900	missense	possibly damaging	0.53
X0065:Zfhx2	UTSW	14	55066960	missense	probably benign	0.33
Z1088:Zfhx2	UTSW	14	55074180	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- ACTGGTATCTTCGGGAGAGC -3'
(R):5'- TTCAGGAGGGTCATGATGGC -3'

Sequencing Primer
(F):5'- ATCTTCGGGAGAGCCTGCTG -3'
(R):5'- TGGAACCAAAATTTCTTACCCGTC -3'

Posted On

2017-10-10