Mutagenetix > Incidental Mutation

Incidental Mutation 'R5513:Zfp236'

440200

Institutional Source

Beutler Lab

Gene Symbol

Zfp236

Ensembl Gene

ENSMUSG00000041258

Gene Name

zinc finger protein 236

Synonyms

LOC240456

MMRRC Submission

043073-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82611718-82711008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82676147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 390 (I390T)

Ref Sequence

ENSEMBL: ENSMUSP00000138179 (fasta)

Gene Model

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

AlphaFold

S4R299

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171071
AA Change: I342T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: I342T

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

possibly damaging
Transcript: ENSMUST00000182122
AA Change: I390T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: I390T

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 damaging
Transcript: ENSMUST00000183048
AA Change: I390T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258
AA Change: I390T

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

Meta Mutation Damage Score

0.1471

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,623 (GRCm39)		probably null	Het
Akr1b1	C	A	6: 34,293,581 (GRCm39)		probably benign	Het
Alppl2	T	A	1: 87,015,060 (GRCm39)	N434Y	probably benign	Het
Ampd2	A	G	3: 107,982,983 (GRCm39)	I648T	possibly damaging	Het
Ankrd11	T	C	8: 123,619,259 (GRCm39)	E1510G	probably benign	Het
Ano2	A	C	6: 126,016,285 (GRCm39)	K939N	possibly damaging	Het
Arhgef5	A	G	6: 43,249,273 (GRCm39)	Y8C	probably damaging	Het
Aspm	A	T	1: 139,410,136 (GRCm39)	I2609F	probably damaging	Het
Camsap2	A	T	1: 136,208,601 (GRCm39)	S964T	probably benign	Het
Cd22	C	T	7: 30,566,450 (GRCm39)	R823Q	probably damaging	Het
Cd74	T	C	18: 60,944,377 (GRCm39)	C196R	probably damaging	Het
Cfap73	A	T	5: 120,769,777 (GRCm39)	I82N	probably damaging	Het
Cidec	A	T	6: 113,405,140 (GRCm39)	Y177N	probably damaging	Het
Crb1	C	T	1: 139,164,559 (GRCm39)		probably null	Het
Cts7	T	C	13: 61,503,398 (GRCm39)	K189E	possibly damaging	Het
Cyp2c68	A	T	19: 39,691,850 (GRCm39)	Y358N	probably damaging	Het
Dab2ip	A	T	2: 35,600,266 (GRCm39)	H294L	probably benign	Het
Dnah6	T	C	6: 73,167,402 (GRCm39)	D502G	probably null	Het
Dnah8	T	A	17: 30,971,890 (GRCm39)	M2768K	probably damaging	Het
Etl4	C	A	2: 20,748,638 (GRCm39)	S405R	probably damaging	Het
Fsip2	G	T	2: 82,781,252 (GRCm39)	L19F	probably damaging	Het
Fsip2	T	A	2: 82,815,542 (GRCm39)	N3758K	possibly damaging	Het
Fsip2	C	G	2: 82,781,256 (GRCm39)	Q217E	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Hivep2	A	T	10: 14,008,417 (GRCm39)	K1672*	probably null	Het
Igkv2-137	G	A	6: 67,532,998 (GRCm39)	G54S	possibly damaging	Het
Ints8	A	G	4: 11,248,303 (GRCm39)	V105A	possibly damaging	Het
Lrba	C	T	3: 86,449,948 (GRCm39)	S2089F	probably damaging	Het
Lrrc8b	A	G	5: 105,633,850 (GRCm39)	K774R	probably damaging	Het
Mcm4	T	A	16: 15,448,378 (GRCm39)	Y393F	probably benign	Het
Mki67	A	G	7: 135,309,479 (GRCm39)	L324P	probably damaging	Het
Or4d6	A	G	19: 12,086,745 (GRCm39)	L55P	probably damaging	Het
Or52n3	A	T	7: 104,530,706 (GRCm39)	H264L	probably damaging	Het
Or5a3	G	A	19: 12,400,047 (GRCm39)	V125I	probably benign	Het
Or9s13	T	C	1: 92,548,102 (GRCm39)	V158A	probably benign	Het
Pld4	A	G	12: 112,728,988 (GRCm39)	E19G	probably benign	Het
Plvap	T	C	8: 71,964,173 (GRCm39)	E63G	probably damaging	Het
Ppig	A	G	2: 69,580,703 (GRCm39)	T746A	probably benign	Het
Prdm2	GCTCCTCCTCCTCCTCCTCCTCCTC	GCTCCTCCTCCTCCTCCTCCTC	4: 142,862,463 (GRCm39)		probably benign	Het
Rbm15b	A	G	9: 106,763,316 (GRCm39)	L284P	probably benign	Het
Relch	G	A	1: 105,678,698 (GRCm39)	V1130I	probably damaging	Het
Rhbdl3	T	C	11: 80,222,668 (GRCm39)	V239A	probably damaging	Het
Sae1	T	C	7: 16,100,781 (GRCm39)	E197G	probably benign	Het
Sdhaf2	C	T	19: 10,494,394 (GRCm39)	R105H	probably damaging	Het
Senp3	T	C	11: 69,567,965 (GRCm39)	D425G	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc46a1	T	C	11: 78,357,376 (GRCm39)	F143S	probably benign	Het
Tom1	T	A	8: 75,783,848 (GRCm39)	N52K	probably damaging	Het
Vmn1r11	A	T	6: 57,114,617 (GRCm39)	T94S	probably damaging	Het
Zfp709	A	T	8: 72,643,900 (GRCm39)	H443L	probably damaging	Het
Zfp960	C	T	17: 17,307,996 (GRCm39)	P237S	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
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
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
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'- TGAGCCATCTAGACCTCAGCAC -3'
(R):5'- AAATGTTGCTGTGTTCCAGGC -3'

Sequencing Primer
(F):5'- GCACTTCCTGTTGGTAATCACATAGG -3'
(R):5'- TGTGTTCCAGGCCACGATC -3'

Posted On

2016-11-08