Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Zfp236'

202877

Institutional Source

Beutler Lab

Gene Symbol

Zfp236

Ensembl Gene

ENSMUSG00000041258

Gene Name

zinc finger protein 236

Synonyms

LOC240456

MMRRC Submission

039817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1786 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

82593593-82692883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82621304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1225 (M1225V)

Ref Sequence

ENSEMBL: ENSMUSP00000130004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171071] [ENSMUST00000182122] [ENSMUST00000183048]

AlphaFold

S4R299

Predicted Effect

probably benign
Transcript: ENSMUST00000171071
AA Change: M1225V

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: M1225V

Domain	Start	End	E-Value	Type
ZnF_C2H2	39	61	2.24e-3	SMART
ZnF_C2H2	68	90	2.29e0	SMART
ZnF_C2H2	95	117	1.26e-2	SMART
ZnF_C2H2	123	145	6.67e-2	SMART
ZnF_C2H2	155	177	6.42e-4	SMART
ZnF_C2H2	199	221	1.75e-5	SMART
ZnF_C2H2	227	249	1.52e-5	SMART
ZnF_C2H2	255	278	8.94e-3	SMART
low complexity region	290	309	N/A	INTRINSIC
low complexity region	403	426	N/A	INTRINSIC
ZnF_C2H2	436	458	1.98e-4	SMART
ZnF_C2H2	464	486	9.58e-3	SMART
ZnF_C2H2	492	514	6.42e-4	SMART
ZnF_C2H2	520	542	1.18e-2	SMART
low complexity region	592	605	N/A	INTRINSIC
ZnF_C2H2	611	633	1.62e0	SMART
ZnF_C2H2	639	661	5.21e-4	SMART
ZnF_C2H2	667	689	6.78e-3	SMART
ZnF_C2H2	695	717	7.37e-4	SMART
low complexity region	720	733	N/A	INTRINSIC
ZnF_C2H2	922	944	5.21e-4	SMART
ZnF_C2H2	950	972	1.04e-3	SMART
ZnF_C2H2	978	1000	8.6e-5	SMART
ZnF_C2H2	1006	1028	2.75e-3	SMART
low complexity region	1030	1039	N/A	INTRINSIC
ZnF_C2H2	1122	1144	7.78e-3	SMART
ZnF_C2H2	1150	1172	3.63e-3	SMART
ZnF_C2H2	1178	1200	6.88e-4	SMART
ZnF_C2H2	1206	1228	5.42e-2	SMART
low complexity region	1243	1258	N/A	INTRINSIC
low complexity region	1462	1477	N/A	INTRINSIC
ZnF_C2H2	1612	1635	7.15e-2	SMART
ZnF_C2H2	1641	1663	2.91e-2	SMART
ZnF_C2H2	1677	1699	7.26e-3	SMART
ZnF_C2H2	1705	1727	1.84e-4	SMART
ZnF_C2H2	1733	1756	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182122
AA Change: M1273V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: M1273V

Domain	Start	End	E-Value	Type
ZnF_C2H2	39	61	2.24e-3	SMART
ZnF_C2H2	68	90	2.29e0	SMART
ZnF_C2H2	95	117	1.26e-2	SMART
ZnF_C2H2	123	145	6.67e-2	SMART
ZnF_C2H2	155	177	6.42e-4	SMART
ZnF_C2H2	199	221	1.75e-5	SMART
ZnF_C2H2	227	249	1.52e-5	SMART
ZnF_C2H2	255	278	8.94e-3	SMART
ZnF_C2H2	287	310	9.58e-3	SMART
low complexity region	338	357	N/A	INTRINSIC
low complexity region	451	474	N/A	INTRINSIC
ZnF_C2H2	484	506	1.98e-4	SMART
ZnF_C2H2	512	534	9.58e-3	SMART
ZnF_C2H2	540	562	6.42e-4	SMART
ZnF_C2H2	568	590	1.18e-2	SMART
low complexity region	640	653	N/A	INTRINSIC
ZnF_C2H2	659	681	1.62e0	SMART
ZnF_C2H2	687	709	5.21e-4	SMART
ZnF_C2H2	715	737	6.78e-3	SMART
ZnF_C2H2	743	765	7.37e-4	SMART
low complexity region	768	781	N/A	INTRINSIC
ZnF_C2H2	970	992	5.21e-4	SMART
ZnF_C2H2	998	1020	1.04e-3	SMART
ZnF_C2H2	1026	1048	8.6e-5	SMART
ZnF_C2H2	1054	1076	2.75e-3	SMART
low complexity region	1078	1087	N/A	INTRINSIC
ZnF_C2H2	1170	1192	7.78e-3	SMART
ZnF_C2H2	1198	1220	3.63e-3	SMART
ZnF_C2H2	1226	1248	6.88e-4	SMART
ZnF_C2H2	1254	1276	5.42e-2	SMART
low complexity region	1291	1306	N/A	INTRINSIC
low complexity region	1510	1525	N/A	INTRINSIC
ZnF_C2H2	1660	1683	7.15e-2	SMART
ZnF_C2H2	1689	1711	2.91e-2	SMART
ZnF_C2H2	1725	1747	7.26e-3	SMART
ZnF_C2H2	1753	1775	1.84e-4	SMART
ZnF_C2H2	1781	1804	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183048

SMART Domains

Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258

Domain	Start	End	E-Value	Type
ZnF_C2H2	39	61	2.24e-3	SMART
ZnF_C2H2	68	90	2.29e0	SMART
ZnF_C2H2	95	117	1.26e-2	SMART
ZnF_C2H2	123	145	6.67e-2	SMART
ZnF_C2H2	155	177	6.42e-4	SMART
ZnF_C2H2	199	221	1.75e-5	SMART
ZnF_C2H2	227	249	1.52e-5	SMART
ZnF_C2H2	255	278	8.94e-3	SMART
ZnF_C2H2	287	310	9.58e-3	SMART
low complexity region	338	357	N/A	INTRINSIC
low complexity region	454	467	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183324

Meta Mutation Damage Score

0.0747

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Cpd	T	C	11: 76,792,798	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665		probably benign	Het
Dync2h1	A	G	9: 7,081,084	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325		noncoding transcript	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536		probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735		probably benign	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273		probably null	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,441,449	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slfn9	T	A	11: 82,981,307	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443		probably benign	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het

Other mutations in Zfp236

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Zfp236	APN	18	82668690	missense	probably benign	0.44
IGL01760:Zfp236	APN	18	82621422	missense	probably damaging	1.00
IGL01923:Zfp236	APN	18	82682219	missense	probably damaging	0.98
IGL01934:Zfp236	APN	18	82633120	missense	probably damaging	0.99
IGL01949:Zfp236	APN	18	82624396	missense	probably damaging	1.00
IGL02063:Zfp236	APN	18	82658151	missense	probably benign
IGL02496:Zfp236	APN	18	82629992	missense	probably damaging	1.00
IGL02513:Zfp236	APN	18	82630114	missense	probably damaging	1.00
IGL02626:Zfp236	APN	18	82657995	splice site	probably benign
IGL02880:Zfp236	APN	18	82624459	missense	probably benign	0.15
IGL03156:Zfp236	APN	18	82680702	missense	probably damaging	1.00
IGL03261:Zfp236	APN	18	82630608	missense	possibly damaging	0.93
R0047:Zfp236	UTSW	18	82680692	missense	probably damaging	1.00
R0052:Zfp236	UTSW	18	82639332	missense	probably damaging	1.00
R0194:Zfp236	UTSW	18	82656987	missense	probably damaging	1.00
R0207:Zfp236	UTSW	18	82640227	missense	probably damaging	1.00
R0234:Zfp236	UTSW	18	82629994	missense	probably damaging	1.00
R0234:Zfp236	UTSW	18	82629994	missense	probably damaging	1.00
R0302:Zfp236	UTSW	18	82658088	missense	probably damaging	0.99
R0730:Zfp236	UTSW	18	82640244	splice site	probably benign
R0755:Zfp236	UTSW	18	82620332	missense	probably damaging	1.00
R1202:Zfp236	UTSW	18	82628166	missense	probably benign	0.00
R1449:Zfp236	UTSW	18	82646005	missense	probably damaging	1.00
R1550:Zfp236	UTSW	18	82674424	missense	possibly damaging	0.81
R1785:Zfp236	UTSW	18	82621304	missense	probably benign	0.08
R2042:Zfp236	UTSW	18	82633109	missense	probably damaging	1.00
R2132:Zfp236	UTSW	18	82621304	missense	probably benign	0.08
R2133:Zfp236	UTSW	18	82621304	missense	probably benign	0.08
R2247:Zfp236	UTSW	18	82604298	missense	possibly damaging	0.82
R2484:Zfp236	UTSW	18	82668637	missense	probably benign	0.05
R3715:Zfp236	UTSW	18	82632970	splice site	probably benign
R4003:Zfp236	UTSW	18	82680745	nonsense	probably null
R4031:Zfp236	UTSW	18	82624465	missense	probably damaging	1.00
R4482:Zfp236	UTSW	18	82644221	missense	probably benign	0.04
R4492:Zfp236	UTSW	18	82630000	missense	probably damaging	1.00
R4502:Zfp236	UTSW	18	82636954	missense	probably benign	0.13
R4561:Zfp236	UTSW	18	82620406	missense	probably damaging	1.00
R4649:Zfp236	UTSW	18	82597659	missense	probably damaging	1.00
R4902:Zfp236	UTSW	18	82609418	missense	possibly damaging	0.89
R5064:Zfp236	UTSW	18	82691576	critical splice donor site	probably null
R5084:Zfp236	UTSW	18	82609431	missense	probably damaging	1.00
R5090:Zfp236	UTSW	18	82618881	missense	probably benign	0.08
R5191:Zfp236	UTSW	18	82621423	missense	probably damaging	1.00
R5264:Zfp236	UTSW	18	82630094	missense	probably damaging	1.00
R5264:Zfp236	UTSW	18	82658073	missense	probably damaging	0.99
R5339:Zfp236	UTSW	18	82624366	missense	probably damaging	0.99
R5375:Zfp236	UTSW	18	82597688	missense	possibly damaging	0.93
R5445:Zfp236	UTSW	18	82682156	missense	probably benign	0.02
R5513:Zfp236	UTSW	18	82658022	missense	probably damaging	0.97
R5527:Zfp236	UTSW	18	82658034	missense	possibly damaging	0.51
R5628:Zfp236	UTSW	18	82657122	missense	probably damaging	1.00
R5758:Zfp236	UTSW	18	82671709	missense	probably damaging	1.00
R5890:Zfp236	UTSW	18	82640151	missense	possibly damaging	0.87
R6137:Zfp236	UTSW	18	82671794	missense	possibly damaging	0.89
R6193:Zfp236	UTSW	18	82604247	missense	probably damaging	1.00
R6198:Zfp236	UTSW	18	82657153	missense	probably damaging	1.00
R6239:Zfp236	UTSW	18	82657104	missense	possibly damaging	0.53
R6705:Zfp236	UTSW	18	82633737	missense	probably damaging	0.97
R6948:Zfp236	UTSW	18	82644062	missense	possibly damaging	0.94
R6989:Zfp236	UTSW	18	82628363	missense	probably damaging	1.00
R7002:Zfp236	UTSW	18	82691576	critical splice donor site	probably null
R7113:Zfp236	UTSW	18	82620337	missense	possibly damaging	0.82
R7261:Zfp236	UTSW	18	82609345	missense	possibly damaging	0.86
R7363:Zfp236	UTSW	18	82621331	missense	probably damaging	1.00
R7447:Zfp236	UTSW	18	82633690	missense	probably damaging	1.00
R7564:Zfp236	UTSW	18	82644241	nonsense	probably null
R7731:Zfp236	UTSW	18	82680673	missense	probably benign	0.27
R7857:Zfp236	UTSW	18	82668601	nonsense	probably null
R7860:Zfp236	UTSW	18	82674356	nonsense	probably null
R7904:Zfp236	UTSW	18	82609382	missense	possibly damaging	0.90
R7948:Zfp236	UTSW	18	82624415	missense	probably damaging	1.00
R7995:Zfp236	UTSW	18	82639336	missense	probably damaging	1.00
R8153:Zfp236	UTSW	18	82630027	missense	probably damaging	1.00
R8435:Zfp236	UTSW	18	82640241	missense	probably damaging	1.00
R8560:Zfp236	UTSW	18	82646215	missense	probably damaging	1.00
R8878:Zfp236	UTSW	18	82598997	missense	probably damaging	1.00
R8916:Zfp236	UTSW	18	82646226	missense	probably damaging	1.00
R9046:Zfp236	UTSW	18	82618917	missense	possibly damaging	0.89
R9076:Zfp236	UTSW	18	82620344	missense	possibly damaging	0.77
R9243:Zfp236	UTSW	18	82643925	intron	probably benign
R9594:Zfp236	UTSW	18	82646113	missense	probably damaging	1.00
R9642:Zfp236	UTSW	18	82604259	missense	probably benign	0.00
R9707:Zfp236	UTSW	18	82646203	missense	probably damaging	1.00
R9748:Zfp236	UTSW	18	82618883	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGGCTGAAGCACATTCTGATC -3'
(R):5'- TTTGCTATCTGAAGCCAGGGTG -3'

Sequencing Primer
(F):5'- TGATCAAACTGCCCTGTTAGGAC -3'
(R):5'- GTCCATACTGGCTGTGAGC -3'

Posted On

2014-06-23