Mutagenetix > Incidental Mutation

Incidental Mutation 'R1594:Zfp438'

175590

Institutional Source

Beutler Lab

Gene Symbol

Zfp438

Ensembl Gene

ENSMUSG00000050945

Gene Name

zinc finger protein 438

Synonyms

9430091M14Rik, B830013J05Rik

MMRRC Submission

039631-MU

Accession Numbers

Essential gene?

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

Stock #

R1594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5210029-5334807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5213515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 481 (L481P)

Ref Sequence

ENSEMBL: ENSMUSP00000067049 (fasta)

Gene Model

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

AlphaFold

Q8BFX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063989
AA Change: L481P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067049
Gene: ENSMUSG00000050945
AA Change: L481P

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	G	A	16: 30,946,205 (GRCm39)	A264V	probably benign	Het
Adam17	A	G	12: 21,390,471 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,352,602 (GRCm39)	N479D	probably benign	Het
C2cd2l	A	G	9: 44,228,070 (GRCm39)	S84P	probably damaging	Het
Capn13	A	G	17: 73,658,474 (GRCm39)	V198A	probably benign	Het
Cblc	G	A	7: 19,526,471 (GRCm39)	S206F	probably damaging	Het
Ccdc7b	A	T	8: 129,904,838 (GRCm39)	T159S	possibly damaging	Het
Clpx	A	G	9: 65,231,552 (GRCm39)	T546A	probably damaging	Het
Col18a1	A	G	10: 76,948,870 (GRCm39)	V214A	possibly damaging	Het
Csgalnact1	A	T	8: 68,811,284 (GRCm39)	V462E	probably damaging	Het
Cts6	G	A	13: 61,346,181 (GRCm39)	T202I	probably damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
D630003M21Rik	T	A	2: 158,053,550 (GRCm39)	Q646L	probably damaging	Het
E2f2	A	G	4: 135,914,141 (GRCm39)	Q297R	possibly damaging	Het
Eef1d	T	C	15: 75,768,195 (GRCm39)	E189G	probably damaging	Het
Fam114a2	A	C	11: 57,404,066 (GRCm39)		probably null	Het
Fam24b	A	C	7: 130,928,025 (GRCm39)	Y55D	probably benign	Het
Gimap6	T	C	6: 48,679,125 (GRCm39)	T304A	probably benign	Het
Gm11232	T	C	4: 71,675,572 (GRCm39)	E63G	possibly damaging	Het
Hbs1l	A	G	10: 21,227,922 (GRCm39)	M152V	probably benign	Het
Herc3	C	A	6: 58,864,569 (GRCm39)		probably benign	Het
Hmx2	A	G	7: 131,157,231 (GRCm39)	D115G	probably benign	Het
Igsf3	C	A	3: 101,358,393 (GRCm39)	Y761*	probably null	Het
Kbtbd13	A	G	9: 65,298,901 (GRCm39)	W12R	probably benign	Het
Kif2c	C	A	4: 117,035,385 (GRCm39)	R21L	probably benign	Het
Kmt2c	T	C	5: 25,519,876 (GRCm39)	N2078S	probably benign	Het
Mgst3	T	A	1: 167,201,379 (GRCm39)	Y102F	probably damaging	Het
Mov10	G	T	3: 104,702,727 (GRCm39)	T946N	probably damaging	Het
Nbeal1	T	A	1: 60,344,450 (GRCm39)	I2317N	possibly damaging	Het
Nid2	T	A	14: 19,831,329 (GRCm39)	I741N	probably benign	Het
Nlrp9a	G	A	7: 26,269,932 (GRCm39)	W786*	probably null	Het
Or8g20	A	C	9: 39,396,042 (GRCm39)	I166S	probably benign	Het
Or9a7	T	C	6: 40,521,281 (GRCm39)	I211V	probably benign	Het
Pi4ka	G	T	16: 17,191,283 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,812,310 (GRCm39)		probably benign	Het
Psg16	A	G	7: 16,827,748 (GRCm39)	T144A	probably damaging	Het
Sec24b	A	G	3: 129,785,000 (GRCm39)	V1002A	probably benign	Het
Shank1	A	T	7: 43,976,647 (GRCm39)	K582*	probably null	Het
Slc22a7	T	C	17: 46,748,957 (GRCm39)	D120G	possibly damaging	Het
Slco6c1	T	A	1: 96,990,163 (GRCm39)	T676S	probably benign	Het
Sulf2	A	G	2: 165,926,367 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,946,976 (GRCm39)	D344G	probably damaging	Het
Tle4	C	T	19: 14,430,970 (GRCm39)	W604*	probably null	Het
Tmco3	T	C	8: 13,342,052 (GRCm39)	S109P	probably damaging	Het
Unc13d	T	G	11: 115,959,538 (GRCm39)	D647A	probably benign	Het
Usp19	T	C	9: 108,375,721 (GRCm39)	V887A	probably damaging	Het
Vmn2r49	A	T	7: 9,710,550 (GRCm39)	D727E	probably damaging	Het
Ypel1	A	G	16: 16,899,985 (GRCm39)	H72R	probably damaging	Het
Zfp407	A	G	18: 84,227,456 (GRCm39)	V2051A	probably benign	Het
Zfp850	C	A	7: 27,688,816 (GRCm39)	R464L	probably benign	Het
Zfp985	T	C	4: 147,667,537 (GRCm39)	V135A	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
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
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'- GCCGAAATAGACTCGGACATGACC -3'
(R):5'- AGTATCGTAACATCATGCCCAAGCC -3'

Sequencing Primer
(F):5'- CGGACATGACCAAATACTTTTGC -3'
(R):5'- ATCATGCCCAAGCCTGTCC -3'

Posted On

2014-04-24