Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Zfp433'

514401

Institutional Source

Beutler Lab

Gene Symbol

Zfp433

Ensembl Gene

ENSMUSG00000096795

Gene Name

zinc finger protein 433

Synonyms

1700123A16Rik

MMRRC Submission

044495-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R6341 (G1)

Quality Score

149.008

Status

Not validated

Chromosome

Chromosomal Location

81540581-81562021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81555957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 152 (E152G)

Ref Sequence

ENSEMBL: ENSMUSP00000082807 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000085664
AA Change: E152G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082807
Gene: ENSMUSG00000096795
AA Change: E152G

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: E153G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144123
Gene: ENSMUSG00000096795
AA Change: E153G

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
AA Change: E121G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144100
Gene: ENSMUSG00000096795
AA Change: E121G

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: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	probably benign	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
R6480:Zfp433	UTSW	10	81,556,078 (GRCm39)	missense	possibly damaging	0.73
R6681:Zfp433	UTSW	10	81,556,722 (GRCm39)	missense	probably damaging	1.00
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'- CCTGTGTGTATGCAGTGTGAAAC -3'
(R):5'- TCATAAGGTTTCTCTCCAGTGTG -3'

Sequencing Primer
(F):5'- TACAAGCCTTGTGAGCATAAGGG -3'
(R):5'- TTTGAAGATGACTGCGACATGC -3'

Posted On

2018-04-27