Mutagenetix > Incidental Mutation

Incidental Mutation 'R6681:Zfp433'

527506

Institutional Source

Beutler Lab

Gene Symbol

Zfp433

Ensembl Gene

ENSMUSG00000096795

Gene Name

zinc finger protein 433

Synonyms

1700123A16Rik

MMRRC Submission

044800-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R6681 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

81540581-81562021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81556722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 408 (H408L)

Ref Sequence

ENSEMBL: ENSMUSP00000144123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085664] [ENSMUST00000200889] [ENSMUST00000201819]

AlphaFold

A0A0J9YUD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000085664
AA Change: H407L

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

SMART Domains

Protein: ENSMUSP00000082807
Gene: ENSMUSG00000096795
AA Change: H407L

Domain	Start	End	E-Value	Type
KRAB	3	65	2.34e-15	SMART
ZnF_C2H2	105	127	1.18e-2	SMART
ZnF_C2H2	133	155	2.43e-4	SMART
ZnF_C2H2	161	183	1.6e-4	SMART
ZnF_C2H2	189	211	2.09e-3	SMART
ZnF_C2H2	217	239	1.26e-2	SMART
ZnF_C2H2	245	267	3.69e-4	SMART
ZnF_C2H2	273	295	4.87e-4	SMART
ZnF_C2H2	301	323	8.34e-3	SMART
ZnF_C2H2	329	351	8.34e-3	SMART
ZnF_C2H2	357	379	3.78e-1	SMART
ZnF_C2H2	385	407	2.36e-2	SMART
ZnF_C2H2	413	435	1.69e-3	SMART
ZnF_C2H2	441	463	5.9e-3	SMART
ZnF_C2H2	469	491	2.99e-4	SMART
ZnF_C2H2	497	519	8.94e-3	SMART
ZnF_C2H2	525	547	1.6e-4	SMART
ZnF_C2H2	553	575	5.21e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200889
AA Change: H408L

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

SMART Domains

Protein: ENSMUSP00000144123
Gene: ENSMUSG00000096795
AA Change: H408L

Domain	Start	End	E-Value	Type
KRAB	4	66	9.8e-18	SMART
ZnF_C2H2	106	128	5.1e-5	SMART
ZnF_C2H2	134	156	1e-6	SMART
ZnF_C2H2	162	184	7.1e-7	SMART
ZnF_C2H2	190	212	8.8e-6	SMART
ZnF_C2H2	218	240	5.4e-5	SMART
ZnF_C2H2	246	268	1.6e-6	SMART
ZnF_C2H2	274	296	2e-6	SMART
ZnF_C2H2	302	324	3.7e-5	SMART
ZnF_C2H2	330	352	3.7e-5	SMART
ZnF_C2H2	358	380	1.6e-3	SMART
ZnF_C2H2	386	408	1e-4	SMART
ZnF_C2H2	414	436	7.4e-6	SMART
ZnF_C2H2	442	464	2.6e-5	SMART
ZnF_C2H2	470	492	1.3e-6	SMART
ZnF_C2H2	498	520	3.9e-5	SMART
ZnF_C2H2	526	548	7e-7	SMART
ZnF_C2H2	554	576	2.3e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201114

Predicted Effect

probably benign
Transcript: ENSMUST00000201819

SMART Domains

Protein: ENSMUSP00000144100
Gene: ENSMUSG00000096795

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	2e-17	BLAST
ZnF_C2H2	74	96	5.1e-5	SMART
ZnF_C2H2	102	124	1e-6	SMART
ZnF_C2H2	130	152	7.1e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219225

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,915,447 (GRCm39)	T971S	probably damaging	Het
Catsperb	C	T	12: 101,590,994 (GRCm39)	Q1021*	probably null	Het
Ccdc62	A	G	5: 124,072,156 (GRCm39)	T62A	probably benign	Het
Cuzd1	A	G	7: 130,913,412 (GRCm39)	S402P	probably damaging	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Dennd2c	A	G	3: 103,038,977 (GRCm39)	T42A	probably benign	Het
Dnah7a	T	C	1: 53,560,385 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpp4	A	T	2: 62,178,893 (GRCm39)	F607L	probably benign	Het
Ech1	C	T	7: 28,529,763 (GRCm39)		probably null	Het
Fam53a	A	G	5: 33,765,184 (GRCm39)	L174P	probably damaging	Het
Fh1	T	C	1: 175,446,690 (GRCm39)	D62G	probably null	Het
Gpatch11	T	C	17: 79,147,528 (GRCm39)	I103T	probably damaging	Het
Hmgcll1	A	T	9: 75,988,731 (GRCm39)	T169S	probably benign	Het
Kbtbd3	A	T	9: 4,330,687 (GRCm39)	I354F	probably benign	Het
Kdm5b	T	C	1: 134,541,007 (GRCm39)	F700L	possibly damaging	Het
Mamdc4	C	A	2: 25,457,756 (GRCm39)	G439V	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Mug1	C	T	6: 121,815,683 (GRCm39)	S29L	possibly damaging	Het
Myh2	G	A	11: 67,069,174 (GRCm39)	D328N	probably damaging	Het
Or10j3b	C	A	1: 173,043,973 (GRCm39)	H252N	probably damaging	Het
Or5b98	A	G	19: 12,931,823 (GRCm39)	Y290C	probably damaging	Het
Or5j1	T	C	2: 86,878,942 (GRCm39)	T213A	probably benign	Het
Or8g54	T	A	9: 39,706,710 (GRCm39)	I13N	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pira13	T	A	7: 3,825,251 (GRCm39)	M464L	probably benign	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Rest	A	G	5: 77,428,844 (GRCm39)	K421R	probably damaging	Het
Rttn	C	A	18: 89,032,735 (GRCm39)	H668N	probably damaging	Het
Scn9a	T	C	2: 66,393,686 (GRCm39)	I228V	possibly damaging	Het
Scp2	G	T	4: 107,948,513 (GRCm39)	Q155K	probably damaging	Het
Sec61a2	G	A	2: 5,881,219 (GRCm39)	R18*	probably null	Het
Serpinb8	T	A	1: 107,525,321 (GRCm39)	M41K	probably damaging	Het
Sgsm2	A	T	11: 74,756,204 (GRCm39)	W382R	probably damaging	Het
Slc26a10	G	T	10: 127,009,530 (GRCm39)	T606N	possibly damaging	Het
Slc30a6	T	C	17: 74,711,027 (GRCm39)	I40T	possibly damaging	Het
Slfn5	G	A	11: 82,847,204 (GRCm39)	E30K	possibly damaging	Het
Sorcs2	C	A	5: 36,555,154 (GRCm39)	R79L	probably benign	Het
Tmc5	G	A	7: 118,268,527 (GRCm39)	S865N	probably damaging	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Trpv5	C	G	6: 41,630,288 (GRCm39)	E601Q	probably damaging	Het
Ttc39b	A	T	4: 83,158,285 (GRCm39)		probably benign	Het
Ttll6	T	A	11: 96,029,689 (GRCm39)	C201S	probably damaging	Het
Vezt	A	G	10: 93,832,859 (GRCm39)	V204A	probably benign	Het
Vmn1r45	T	A	6: 89,910,985 (GRCm39)		probably benign	Het
Zfp865	T	C	7: 5,032,450 (GRCm39)	I145T	possibly damaging	Het

Other mutations in Zfp433

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4238:Zfp433	UTSW	10	81,556,046 (GRCm39)	missense	probably damaging	0.99
R5574:Zfp433	UTSW	10	81,555,125 (GRCm39)	nonsense	probably null
R6341:Zfp433	UTSW	10	81,555,957 (GRCm39)	missense	probably damaging	0.99
R6480:Zfp433	UTSW	10	81,556,078 (GRCm39)	missense	possibly damaging	0.73
R7142:Zfp433	UTSW	10	81,556,040 (GRCm39)	nonsense	probably null
R7382:Zfp433	UTSW	10	81,556,659 (GRCm39)	missense	probably benign	0.11
R8058:Zfp433	UTSW	10	81,556,124 (GRCm39)	nonsense	probably null
R8849:Zfp433	UTSW	10	81,556,875 (GRCm39)	missense	probably benign	0.09
R9129:Zfp433	UTSW	10	81,555,724 (GRCm39)	nonsense	probably null
R9293:Zfp433	UTSW	10	81,556,122 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTTCGAAATCATGAGGAACATCAT -3'
(R):5'- GTTTCTGAAGAAGACTGCGACG -3'

Sequencing Primer
(F):5'- TCATGAGGAACATCATACTCTTGAG -3'
(R):5'- TGACGTGCAAAGGCTTTACC -3'

Posted On

2018-07-23