Mutagenetix > Incidental Mutation

Incidental Mutation 'R8819:Zfp438'

672951

Institutional Source

Beutler Lab

Gene Symbol

Zfp438

Ensembl Gene

ENSMUSG00000050945

Gene Name

zinc finger protein 438

Synonyms

9430091M14Rik, B830013J05Rik

MMRRC Submission

068652-MU

Accession Numbers

Essential gene?

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

Stock #

R8819 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5210029-5334807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5213383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 525 (I525T)

Ref Sequence

ENSEMBL: ENSMUSP00000067049 (fasta)

Gene Model

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

AlphaFold

Q8BFX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063989
AA Change: I525T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067049
Gene: ENSMUSG00000050945
AA Change: I525T

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

Meta Mutation Damage Score

0.1122

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,576 (GRCm39)	L266P	probably damaging	Het
Als2cl	T	C	9: 110,714,855 (GRCm39)	F125L	probably benign	Het
Arhgap33	T	C	7: 30,228,165 (GRCm39)	I406V	probably benign	Het
Bag5	T	C	12: 111,677,709 (GRCm39)	N38S	probably benign	Het
Clk2	T	A	3: 89,082,730 (GRCm39)	M392K	probably damaging	Het
Cngb1	C	T	8: 95,980,037 (GRCm39)		probably null	Het
Cps1	T	A	1: 67,267,439 (GRCm39)	N1402K	possibly damaging	Het
Cracd	CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG	C	5: 77,004,793 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,092,016 (GRCm39)	H168R	probably damaging	Het
Dapl1	T	C	2: 59,335,056 (GRCm39)	L70P	probably damaging	Het
Ddr2	T	A	1: 169,805,483 (GRCm39)	K836*	probably null	Het
Dnmbp	C	T	19: 43,889,854 (GRCm39)	V638M	probably benign	Het
Dsel	A	G	1: 111,787,994 (GRCm39)	L847P	probably benign	Het
Eef1b2	T	C	1: 63,217,268 (GRCm39)		probably benign	Het
Eif1ad8	C	T	12: 87,563,910 (GRCm39)	R82*	probably null	Het
Fbll1	T	C	11: 35,688,802 (GRCm39)	K154E	probably benign	Het
Fbxw17	A	T	13: 50,587,351 (GRCm39)	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001 (GRCm39)	V174A	possibly damaging	Het
Frem1	C	A	4: 82,821,754 (GRCm39)	S2118I	probably damaging	Het
Gabrb3	T	C	7: 57,442,329 (GRCm39)	S212P	probably damaging	Het
Gimap9	A	G	6: 48,654,821 (GRCm39)	D136G	probably benign	Het
Hps1	T	C	19: 42,759,648 (GRCm39)	I55V	probably benign	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Ift46	C	T	9: 44,701,819 (GRCm39)	T283I	probably damaging	Het
Ldb2	G	A	5: 44,956,757 (GRCm39)	Q27*	probably null	Het
Lmcd1	T	A	6: 112,306,770 (GRCm39)	I314N	probably damaging	Het
Lypd9	T	G	11: 58,337,129 (GRCm39)	S115R	probably damaging	Het
Mctp2	C	A	7: 71,879,081 (GRCm39)	V259L	probably benign	Het
Midn	T	G	10: 79,990,234 (GRCm39)	S302A	probably damaging	Het
Ncor2	A	G	5: 125,106,291 (GRCm39)	V797A		Het
Npm2	A	G	14: 70,885,768 (GRCm39)	S146P	probably damaging	Het
Npr1	G	A	3: 90,372,201 (GRCm39)	R204C	probably damaging	Het
Or2w2	G	A	13: 21,757,999 (GRCm39)	S209L	probably benign	Het
Or52n3	T	A	7: 104,530,862 (GRCm39)	V316D	possibly damaging	Het
Or6e1	C	T	14: 54,520,070 (GRCm39)	G94D	probably benign	Het
Paip2b	A	C	6: 83,791,738 (GRCm39)	M48R	probably damaging	Het
Pcsk2	T	A	2: 143,642,990 (GRCm39)	H422Q	probably damaging	Het
Pdzph1	G	C	17: 59,187,715 (GRCm39)	Y1168*	probably null	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Prelp	T	C	1: 133,842,878 (GRCm39)	N89S	probably damaging	Het
Rapgef3	T	C	15: 97,646,538 (GRCm39)	N799S	probably benign	Het
Rel	C	T	11: 23,695,626 (GRCm39)	R219H	probably damaging	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Rimbp3	T	C	16: 17,028,771 (GRCm39)	S732P	probably benign	Het
Rock1	A	G	18: 10,070,626 (GRCm39)	F1196S	probably damaging	Het
Ryr3	A	G	2: 112,690,069 (GRCm39)	V1180A	probably benign	Het
Ryr3	G	A	2: 112,466,137 (GRCm39)	R4795W	probably damaging	Het
Scn11a	T	C	9: 119,645,586 (GRCm39)	I123V	probably benign	Het
Sema4b	G	C	7: 79,870,248 (GRCm39)	E475D	probably damaging	Het
Serinc2	C	A	4: 130,149,172 (GRCm39)	M343I	probably damaging	Het
Serinc5	G	T	13: 92,844,544 (GRCm39)	V429F	probably benign	Het
Tnfsf10	G	A	3: 27,389,451 (GRCm39)	V171M	probably benign	Het
Zfp27	T	C	7: 29,594,013 (GRCm39)	K651E	probably benign	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
R6058:Zfp438	UTSW	18	5,213,209 (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
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'- GGTCCTTGCATACCAGGATCTC -3'
(R):5'- AGCAAAGTGACAGCTCTACC -3'

Sequencing Primer
(F):5'- TCCTGGCTGCAGTTCACTGG -3'
(R):5'- GTGACAGCTCTACCCCTAAGC -3'

Posted On

2021-04-30