Mutagenetix > Incidental Mutation

Incidental Mutation 'R4003:Zfp236'

311366

Institutional Source

Beutler Lab

Gene Symbol

Zfp236

Ensembl Gene

ENSMUSG00000041258

Gene Name

zinc finger protein 236

Synonyms

LOC240456

MMRRC Submission

040945-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4003 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82611718-82711008 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 82698870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 70 (C70*)

Ref Sequence

ENSEMBL: ENSMUSP00000138179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171071] [ENSMUST00000182122] [ENSMUST00000182866] [ENSMUST00000183048]

AlphaFold

S4R299

Predicted Effect

probably null
Transcript: ENSMUST00000171071
AA Change: C70*

SMART Domains

Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: C70*

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 null
Transcript: ENSMUST00000182122
AA Change: C70*

SMART Domains

Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: C70*

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 null
Transcript: ENSMUST00000182866
AA Change: C54*

SMART Domains

Protein: ENSMUSP00000138344
Gene: ENSMUSG00000041258
AA Change: C54*

Domain	Start	End	E-Value	Type
ZnF_C2H2	23	45	2.24e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000183048
AA Change: C70*

SMART Domains

Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258
AA Change: C70*

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

noncoding transcript
Transcript: ENSMUST00000225002

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,451,040 (GRCm39)	M350L	probably benign	Het
Adgrf4	A	T	17: 42,980,650 (GRCm39)	I145N	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Bmp8b	T	A	4: 123,015,671 (GRCm39)		probably benign	Het
Cdhr2	A	T	13: 54,866,079 (GRCm39)	E293V	probably benign	Het
Cerkl	C	A	2: 79,259,138 (GRCm39)	R33L	possibly damaging	Het
Chd9	C	T	8: 91,683,185 (GRCm39)	R542C	probably damaging	Het
Csnk2a1	A	G	2: 152,092,495 (GRCm39)	E22G	probably damaging	Het
Dnah7c	A	G	1: 46,720,977 (GRCm39)	K2834E	probably damaging	Het
Eftud2	C	T	11: 102,750,936 (GRCm39)	E286K	possibly damaging	Het
Elapor2	A	C	5: 9,490,877 (GRCm39)	E629A	probably benign	Het
Fam222b	C	T	11: 78,045,755 (GRCm39)	P439S	probably benign	Het
Gsn	A	G	2: 35,173,995 (GRCm39)	K35E	probably benign	Het
Hif3a	T	A	7: 16,778,844 (GRCm39)	Q358H	probably damaging	Het
L3hypdh	T	C	12: 72,131,890 (GRCm39)	D14G	probably benign	Het
Map2	T	C	1: 66,454,899 (GRCm39)	I1263T	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,959 (GRCm39)	T11A	probably benign	Het
Mylk	C	A	16: 34,783,947 (GRCm39)	A1371D	probably benign	Het
Myo1b	A	G	1: 51,838,689 (GRCm39)		probably null	Het
Or7g35	T	G	9: 19,496,010 (GRCm39)	M59R	probably damaging	Het
Pkp3	A	G	7: 140,668,650 (GRCm39)		probably null	Het
Ppp4r3c1	T	C	X: 88,974,116 (GRCm39)	I694V	probably benign	Het
Ptprt	A	G	2: 161,408,037 (GRCm39)		probably benign	Het
Rabep1	T	A	11: 70,808,193 (GRCm39)	M340K	probably benign	Het
Scn10a	T	C	9: 119,438,034 (GRCm39)	D1945G	probably null	Het
Slc22a2	A	T	17: 12,831,337 (GRCm39)	I376F	probably benign	Het
Slc34a1	T	C	13: 55,550,474 (GRCm39)		probably benign	Het
Smc2	T	C	4: 52,462,897 (GRCm39)	V629A	probably damaging	Het
Stab2	G	T	10: 86,693,988 (GRCm39)	D633E	probably damaging	Het
Tmco3	G	A	8: 13,341,959 (GRCm39)	V78M	probably damaging	Het
Tnfaip2	C	T	12: 111,417,778 (GRCm39)		probably benign	Het
Tnfrsf25	T	C	4: 152,204,058 (GRCm39)	M333T	probably damaging	Het
Triobp	A	G	15: 78,844,177 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfp384	T	C	6: 125,010,200 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,186,730 (GRCm39)	E920G	possibly damaging	Het
Zhx3	G	A	2: 160,622,809 (GRCm39)	P453S	probably 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
IGL01934:Zfp236	APN	18	82,651,245 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GTATGTTAGGCAATTACCTCTTCC -3'
(R):5'- CTTGCTGCAATCCAAAGGAG -3'

Sequencing Primer
(F):5'- CCTTCTCGTGGAGCATAATATGTGC -3'
(R):5'- TGCAATCCAAAGGAGGCTGTTTTAG -3'

Posted On

2015-04-29