Mutagenetix > Incidental Mutation

Incidental Mutation 'R4492:Zfp236'

330811

Institutional Source

Beutler Lab

Gene Symbol

Zfp236

Ensembl Gene

ENSMUSG00000041258

Gene Name

zinc finger protein 236

Synonyms

LOC240456

MMRRC Submission

041581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4492 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

82611718-82711008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82648125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1012 (V1012D)

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: V964D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: V964D

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: V1012D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: V1012D

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	G	10: 89,561,676 (GRCm39)	I157L	probably benign	Het
Amph	T	C	13: 19,333,928 (GRCm39)	V663A	possibly damaging	Het
Anapc16	A	G	10: 59,826,724 (GRCm39)	S50P	possibly damaging	Het
Ank3	T	A	10: 69,644,755 (GRCm39)	V60D	probably damaging	Het
Btbd9	A	G	17: 30,746,545 (GRCm39)	Y94H	probably damaging	Het
Chil3	A	G	3: 106,063,017 (GRCm39)	I191T	probably damaging	Het
Clpb	T	C	7: 101,436,929 (GRCm39)	L668P	probably damaging	Het
Cyp2d22	G	A	15: 82,258,571 (GRCm39)	H97Y	probably benign	Het
Dhrs7	A	T	12: 72,699,899 (GRCm39)	N244K	probably damaging	Het
Dusp4	C	T	8: 35,274,890 (GRCm39)	T3M	possibly damaging	Het
Edc4	GGATTTTAGCCA	G	8: 106,611,700 (GRCm39)		probably null	Het
Etl4	G	A	2: 20,811,676 (GRCm39)	S1621N	possibly damaging	Het
Fam174a	T	C	1: 95,241,701 (GRCm39)	S54P	probably benign	Het
Fdxacb1	T	C	9: 50,681,547 (GRCm39)	F7S	probably damaging	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,812,468 (GRCm39)	L268H	probably damaging	Het
Gpr17	A	T	18: 32,080,304 (GRCm39)	I253N	possibly damaging	Het
H2-T23	A	T	17: 36,343,058 (GRCm39)	N106K	probably damaging	Het
Hspa4	T	C	11: 53,171,296 (GRCm39)	R303G	probably damaging	Het
Irgm1	G	A	11: 48,756,955 (GRCm39)		silent	Het
Jph1	A	C	1: 17,067,770 (GRCm39)	I114S	probably damaging	Het
Kcna1	C	T	6: 126,619,238 (GRCm39)	D361N	possibly damaging	Het
Kcna4	G	A	2: 107,126,436 (GRCm39)	R390Q	probably damaging	Het
Lum	C	A	10: 97,404,300 (GRCm39)	P65H	probably damaging	Het
Mc4r	A	G	18: 66,992,711 (GRCm39)	L134P	probably benign	Het
Mroh8	A	T	2: 157,099,960 (GRCm39)	I248N	probably damaging	Het
Nos2	A	G	11: 78,840,921 (GRCm39)	T677A	probably benign	Het
Nup37	T	A	10: 88,010,791 (GRCm39)	F257I	possibly damaging	Het
Or13c3	T	C	4: 52,855,764 (GRCm39)	I250V	probably benign	Het
Or6k6	C	T	1: 173,944,770 (GRCm39)	V271I	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pdzd2	A	C	15: 12,419,567 (GRCm39)	M501R	possibly damaging	Het
Pitx1	T	C	13: 55,976,465 (GRCm39)	K65E	probably benign	Het
Pla1a	C	T	16: 38,229,972 (GRCm39)	A247T	probably benign	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Prss8	A	G	7: 127,528,979 (GRCm39)	S26P	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rock2	T	A	12: 17,027,684 (GRCm39)	C1334S	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Serpina6	A	G	12: 103,613,146 (GRCm39)	W385R	probably damaging	Het
Slc12a5	T	C	2: 164,821,263 (GRCm39)	M249T	probably benign	Het
Srsf9	T	A	5: 115,470,651 (GRCm39)	I117N	probably damaging	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc21a	T	C	9: 119,770,346 (GRCm39)	V139A	probably benign	Het
Zfp612	C	A	8: 110,815,929 (GRCm39)	Q379K	probably damaging	Het
Zfp930	C	T	8: 69,680,898 (GRCm39)	Q198*	probably null	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
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
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'- GCCAATAAGTACACACTAAGAGTAG -3'
(R):5'- AACACTTGACCCCTGGTGAG -3'

Sequencing Primer
(F):5'- CTAAGAGTAGAGGGTGGCGCTTTC -3'
(R):5'- ACCTGGATGGGCTCGGTAATG -3'

Posted On

2015-07-21