Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Zfp236'

180579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp236

Ensembl Gene

ENSMUSG00000041258

Gene Name

zinc finger protein 236

Synonyms

LOC240456

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

82611718-82711008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82651245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 889 (V889E)

Ref Sequence

ENSEMBL: ENSMUSP00000138557 (fasta)

Gene Model

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

AlphaFold

S4R299

Predicted Effect

probably damaging
Transcript: ENSMUST00000171071
AA Change: V841E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: V841E

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 damaging
Transcript: ENSMUST00000182122
AA Change: V889E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: V889E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly damaging	Het

Other mutations in Zfp236

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Zfp236	APN	18	82,686,815 (GRCm39)	missense	probably benign	0.44
IGL01760:Zfp236	APN	18	82,639,547 (GRCm39)	missense	probably damaging	1.00
IGL01923:Zfp236	APN	18	82,700,344 (GRCm39)	missense	probably damaging	0.98
IGL01949:Zfp236	APN	18	82,642,521 (GRCm39)	missense	probably damaging	1.00
IGL02063:Zfp236	APN	18	82,676,276 (GRCm39)	missense	probably benign
IGL02496:Zfp236	APN	18	82,648,117 (GRCm39)	missense	probably damaging	1.00
IGL02513:Zfp236	APN	18	82,648,239 (GRCm39)	missense	probably damaging	1.00
IGL02626:Zfp236	APN	18	82,676,120 (GRCm39)	splice site	probably benign
IGL02880:Zfp236	APN	18	82,642,584 (GRCm39)	missense	probably benign	0.15
IGL03156:Zfp236	APN	18	82,698,827 (GRCm39)	missense	probably damaging	1.00
IGL03261:Zfp236	APN	18	82,648,733 (GRCm39)	missense	possibly damaging	0.93
R0047:Zfp236	UTSW	18	82,698,817 (GRCm39)	missense	probably damaging	1.00
R0052:Zfp236	UTSW	18	82,657,457 (GRCm39)	missense	probably damaging	1.00
R0194:Zfp236	UTSW	18	82,675,112 (GRCm39)	missense	probably damaging	1.00
R0207:Zfp236	UTSW	18	82,658,352 (GRCm39)	missense	probably damaging	1.00
R0234:Zfp236	UTSW	18	82,648,119 (GRCm39)	missense	probably damaging	1.00
R0234:Zfp236	UTSW	18	82,648,119 (GRCm39)	missense	probably damaging	1.00
R0302:Zfp236	UTSW	18	82,676,213 (GRCm39)	missense	probably damaging	0.99
R0730:Zfp236	UTSW	18	82,658,369 (GRCm39)	splice site	probably benign
R0755:Zfp236	UTSW	18	82,638,457 (GRCm39)	missense	probably damaging	1.00
R1202:Zfp236	UTSW	18	82,646,291 (GRCm39)	missense	probably benign	0.00
R1449:Zfp236	UTSW	18	82,664,130 (GRCm39)	missense	probably damaging	1.00
R1550:Zfp236	UTSW	18	82,692,549 (GRCm39)	missense	possibly damaging	0.81
R1785:Zfp236	UTSW	18	82,639,429 (GRCm39)	missense	probably benign	0.08
R1786:Zfp236	UTSW	18	82,639,429 (GRCm39)	missense	probably benign	0.08
R2042:Zfp236	UTSW	18	82,651,234 (GRCm39)	missense	probably damaging	1.00
R2132:Zfp236	UTSW	18	82,639,429 (GRCm39)	missense	probably benign	0.08
R2133:Zfp236	UTSW	18	82,639,429 (GRCm39)	missense	probably benign	0.08
R2247:Zfp236	UTSW	18	82,622,423 (GRCm39)	missense	possibly damaging	0.82
R2484:Zfp236	UTSW	18	82,686,762 (GRCm39)	missense	probably benign	0.05
R3715:Zfp236	UTSW	18	82,651,095 (GRCm39)	splice site	probably benign
R4003:Zfp236	UTSW	18	82,698,870 (GRCm39)	nonsense	probably null
R4031:Zfp236	UTSW	18	82,642,590 (GRCm39)	missense	probably damaging	1.00
R4482:Zfp236	UTSW	18	82,662,346 (GRCm39)	missense	probably benign	0.04
R4492:Zfp236	UTSW	18	82,648,125 (GRCm39)	missense	probably damaging	1.00
R4502:Zfp236	UTSW	18	82,655,079 (GRCm39)	missense	probably benign	0.13
R4561:Zfp236	UTSW	18	82,638,531 (GRCm39)	missense	probably damaging	1.00
R4649:Zfp236	UTSW	18	82,615,784 (GRCm39)	missense	probably damaging	1.00
R4902:Zfp236	UTSW	18	82,627,543 (GRCm39)	missense	possibly damaging	0.89
R5064:Zfp236	UTSW	18	82,709,701 (GRCm39)	critical splice donor site	probably null
R5084:Zfp236	UTSW	18	82,627,556 (GRCm39)	missense	probably damaging	1.00
R5090:Zfp236	UTSW	18	82,637,006 (GRCm39)	missense	probably benign	0.08
R5191:Zfp236	UTSW	18	82,639,548 (GRCm39)	missense	probably damaging	1.00
R5264:Zfp236	UTSW	18	82,676,198 (GRCm39)	missense	probably damaging	0.99
R5264:Zfp236	UTSW	18	82,648,219 (GRCm39)	missense	probably damaging	1.00
R5339:Zfp236	UTSW	18	82,642,491 (GRCm39)	missense	probably damaging	0.99
R5375:Zfp236	UTSW	18	82,615,813 (GRCm39)	missense	possibly damaging	0.93
R5445:Zfp236	UTSW	18	82,700,281 (GRCm39)	missense	probably benign	0.02
R5513:Zfp236	UTSW	18	82,676,147 (GRCm39)	missense	probably damaging	0.97
R5527:Zfp236	UTSW	18	82,676,159 (GRCm39)	missense	possibly damaging	0.51
R5628:Zfp236	UTSW	18	82,675,247 (GRCm39)	missense	probably damaging	1.00
R5758:Zfp236	UTSW	18	82,689,834 (GRCm39)	missense	probably damaging	1.00
R5890:Zfp236	UTSW	18	82,658,276 (GRCm39)	missense	possibly damaging	0.87
R6137:Zfp236	UTSW	18	82,689,919 (GRCm39)	missense	possibly damaging	0.89
R6193:Zfp236	UTSW	18	82,622,372 (GRCm39)	missense	probably damaging	1.00
R6198:Zfp236	UTSW	18	82,675,278 (GRCm39)	missense	probably damaging	1.00
R6239:Zfp236	UTSW	18	82,675,229 (GRCm39)	missense	possibly damaging	0.53
R6705:Zfp236	UTSW	18	82,651,862 (GRCm39)	missense	probably damaging	0.97
R6948:Zfp236	UTSW	18	82,662,187 (GRCm39)	missense	possibly damaging	0.94
R6989:Zfp236	UTSW	18	82,646,488 (GRCm39)	missense	probably damaging	1.00
R7002:Zfp236	UTSW	18	82,709,701 (GRCm39)	critical splice donor site	probably null
R7113:Zfp236	UTSW	18	82,638,462 (GRCm39)	missense	possibly damaging	0.82
R7261:Zfp236	UTSW	18	82,627,470 (GRCm39)	missense	possibly damaging	0.86
R7363:Zfp236	UTSW	18	82,639,456 (GRCm39)	missense	probably damaging	1.00
R7447:Zfp236	UTSW	18	82,651,815 (GRCm39)	missense	probably damaging	1.00
R7564:Zfp236	UTSW	18	82,662,366 (GRCm39)	nonsense	probably null
R7731:Zfp236	UTSW	18	82,698,798 (GRCm39)	missense	probably benign	0.27
R7857:Zfp236	UTSW	18	82,686,726 (GRCm39)	nonsense	probably null
R7860:Zfp236	UTSW	18	82,692,481 (GRCm39)	nonsense	probably null
R7904:Zfp236	UTSW	18	82,627,507 (GRCm39)	missense	possibly damaging	0.90
R7948:Zfp236	UTSW	18	82,642,540 (GRCm39)	missense	probably damaging	1.00
R7995:Zfp236	UTSW	18	82,657,461 (GRCm39)	missense	probably damaging	1.00
R8153:Zfp236	UTSW	18	82,648,152 (GRCm39)	missense	probably damaging	1.00
R8435:Zfp236	UTSW	18	82,658,366 (GRCm39)	missense	probably damaging	1.00
R8560:Zfp236	UTSW	18	82,664,340 (GRCm39)	missense	probably damaging	1.00
R8878:Zfp236	UTSW	18	82,617,122 (GRCm39)	missense	probably damaging	1.00
R8916:Zfp236	UTSW	18	82,664,351 (GRCm39)	missense	probably damaging	1.00
R9046:Zfp236	UTSW	18	82,637,042 (GRCm39)	missense	possibly damaging	0.89
R9076:Zfp236	UTSW	18	82,638,469 (GRCm39)	missense	possibly damaging	0.77
R9243:Zfp236	UTSW	18	82,662,050 (GRCm39)	intron	probably benign
R9594:Zfp236	UTSW	18	82,664,238 (GRCm39)	missense	probably damaging	1.00
R9642:Zfp236	UTSW	18	82,622,384 (GRCm39)	missense	probably benign	0.00
R9707:Zfp236	UTSW	18	82,664,328 (GRCm39)	missense	probably damaging	1.00
R9748:Zfp236	UTSW	18	82,637,008 (GRCm39)	missense	possibly damaging	0.89

Posted On

2014-05-07