Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Zfp438'

483094

Institutional Source

Beutler Lab

Gene Symbol

Zfp438

Ensembl Gene

ENSMUSG00000050945

Gene Name

zinc finger protein 438

Synonyms

9430091M14Rik, B830013J05Rik

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5210029-5334807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5213209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 583 (E583G)

Ref Sequence

ENSEMBL: ENSMUSP00000067049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063989]

AlphaFold

Q8BFX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063989
AA Change: E583G

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

SMART Domains

Protein: ENSMUSP00000067049
Gene: ENSMUSG00000050945
AA Change: E583G

Domain	Start	End	E-Value	Type
low complexity region	132	151	N/A	INTRINSIC
low complexity region	263	274	N/A	INTRINSIC
low complexity region	427	439	N/A	INTRINSIC
ZnF_C2H2	493	515	5.72e-1	SMART
ZnF_C2H2	521	543	7.26e-3	SMART
ZnF_C2H2	553	576	5.2e0	SMART
ZnF_C2H2	635	658	1.86e1	SMART
ZnF_C2H2	746	769	1.13e1	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	probably damaging	Het

Other mutations in Zfp438

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01907:Zfp438	APN	18	5,213,815 (GRCm39)	missense	probably damaging	1.00
IGL01967:Zfp438	APN	18	5,214,049 (GRCm39)	missense	probably benign	0.00
IGL02003:Zfp438	APN	18	5,214,503 (GRCm39)	missense	probably benign	0.15
IGL02305:Zfp438	APN	18	5,213,674 (GRCm39)	missense	possibly damaging	0.84
IGL02439:Zfp438	APN	18	5,213,216 (GRCm39)	missense	probably damaging	1.00
IGL02744:Zfp438	APN	18	5,214,760 (GRCm39)	missense	probably benign	0.03
IGL02836:Zfp438	APN	18	5,245,427 (GRCm39)	utr 5 prime	probably benign
R0308:Zfp438	UTSW	18	5,213,638 (GRCm39)	missense	probably benign	0.00
R0437:Zfp438	UTSW	18	5,214,910 (GRCm39)	missense	probably damaging	0.97
R1540:Zfp438	UTSW	18	5,210,740 (GRCm39)	missense	probably benign	0.04
R1594:Zfp438	UTSW	18	5,213,515 (GRCm39)	missense	possibly damaging	0.94
R1804:Zfp438	UTSW	18	5,213,689 (GRCm39)	missense	probably damaging	1.00
R2057:Zfp438	UTSW	18	5,214,085 (GRCm39)	missense	probably benign	0.03
R2256:Zfp438	UTSW	18	5,213,508 (GRCm39)	missense	probably damaging	0.99
R4549:Zfp438	UTSW	18	5,214,073 (GRCm39)	missense	probably benign	0.01
R4747:Zfp438	UTSW	18	5,214,403 (GRCm39)	missense	probably benign	0.00
R4858:Zfp438	UTSW	18	5,213,154 (GRCm39)	missense	probably benign	0.01
R4887:Zfp438	UTSW	18	5,213,776 (GRCm39)	missense	possibly damaging	0.55
R5543:Zfp438	UTSW	18	5,213,761 (GRCm39)	missense	probably damaging	1.00
R5646:Zfp438	UTSW	18	5,214,526 (GRCm39)	missense	probably benign	0.36
R6022:Zfp438	UTSW	18	5,213,419 (GRCm39)	missense	probably damaging	1.00
R6460:Zfp438	UTSW	18	5,213,603 (GRCm39)	missense	probably damaging	1.00
R6703:Zfp438	UTSW	18	5,214,044 (GRCm39)	missense	probably benign	0.05
R6766:Zfp438	UTSW	18	5,213,780 (GRCm39)	missense	probably benign	0.07
R7252:Zfp438	UTSW	18	5,214,874 (GRCm39)	nonsense	probably null
R7283:Zfp438	UTSW	18	5,214,712 (GRCm39)	missense	probably damaging	1.00
R7429:Zfp438	UTSW	18	5,214,139 (GRCm39)	missense	probably benign	0.01
R7769:Zfp438	UTSW	18	5,213,377 (GRCm39)	missense	possibly damaging	0.93
R8139:Zfp438	UTSW	18	5,214,013 (GRCm39)	missense	probably benign	0.01
R8291:Zfp438	UTSW	18	5,211,010 (GRCm39)	nonsense	probably null
R8802:Zfp438	UTSW	18	5,213,417 (GRCm39)	missense	possibly damaging	0.88
R8819:Zfp438	UTSW	18	5,213,383 (GRCm39)	missense	possibly damaging	0.91
R8922:Zfp438	UTSW	18	5,213,422 (GRCm39)	missense	possibly damaging	0.65
R9224:Zfp438	UTSW	18	5,210,788 (GRCm39)	missense	probably damaging	1.00
R9416:Zfp438	UTSW	18	5,214,054 (GRCm39)	missense	probably benign	0.01
R9442:Zfp438	UTSW	18	5,214,379 (GRCm39)	missense	probably benign	0.00
R9529:Zfp438	UTSW	18	5,213,501 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- AGCTCTAAACTTTGTCTCTGCAAC -3'
(R):5'- AGACGGCCTTATAGTTGCGG -3'

Sequencing Primer
(F):5'- CTATGCTAGGGAGGAATGAAATATCC -3'
(R):5'- CCTTATAGTTGCGGGATCTGTC -3'

Posted On

2017-07-14