Mutagenetix > Incidental Mutation

Incidental Mutation 'R9293:Zfp433'

704406

Institutional Source

Beutler Lab

Gene Symbol

Zfp433

Ensembl Gene

ENSMUSG00000096795

Gene Name

zinc finger protein 433

Synonyms

1700123A16Rik

MMRRC Submission

068991-MU

Accession Numbers

Essential gene?

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

Stock #

R9293 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81540581-81562021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81556122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 208 (H208L)

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: H207L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082807
Gene: ENSMUSG00000096795
AA Change: H207L

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: H208L

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

SMART Domains

Protein: ENSMUSP00000144123
Gene: ENSMUSG00000096795
AA Change: H208L

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,839 (GRCm39)	S343P	possibly damaging	Het
4930563M21Rik	T	A	9: 55,916,568 (GRCm39)	E36D	unknown	Het
Abcc8	T	G	7: 45,756,092 (GRCm39)	K1450T	probably benign	Het
Aox1	A	T	1: 58,361,953 (GRCm39)	N720Y	possibly damaging	Het
BC034090	T	C	1: 155,101,518 (GRCm39)	T249A	probably benign	Het
Brf2	A	T	8: 27,614,021 (GRCm39)	S388R	probably damaging	Het
Ccdc180	A	T	4: 45,944,461 (GRCm39)	Q1437L	probably damaging	Het
Cdc42ep1	A	C	15: 78,734,025 (GRCm39)	D375A	probably benign	Het
Cep85l	T	C	10: 53,174,282 (GRCm39)	Y487C	probably damaging	Het
Cfap299	C	T	5: 98,646,162 (GRCm39)	A86V	probably benign	Het
Chd3	C	T	11: 69,244,027 (GRCm39)	R1346H	possibly damaging	Het
Cltc	T	A	11: 86,603,446 (GRCm39)	R793S	possibly damaging	Het
Crat	A	G	2: 30,298,214 (GRCm39)	F162L	probably benign	Het
Cyp3a44	C	A	5: 145,711,187 (GRCm39)	V495L	probably benign	Het
Dchs2	C	T	3: 83,189,361 (GRCm39)	T1575I	possibly damaging	Het
Ddx60	A	G	8: 62,462,994 (GRCm39)	T1292A	possibly damaging	Het
Dnah12	C	T	14: 26,495,016 (GRCm39)	A109V	probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fry	T	C	5: 150,419,297 (GRCm39)	S546P		Het
Hfe	T	C	13: 23,890,792 (GRCm39)	K204E	probably benign	Het
Hibch	T	A	1: 52,952,986 (GRCm39)	Y329N	probably damaging	Het
Irf9	T	G	14: 55,846,247 (GRCm39)	I426S	probably damaging	Het
Kif26a	C	A	12: 112,112,835 (GRCm39)	P13T	probably damaging	Het
Lhx5	A	C	5: 120,570,451 (GRCm39)	K36Q	probably benign	Het
Mdn1	T	C	4: 32,707,579 (GRCm39)	S1623P	probably damaging	Het
Mre11a	T	C	9: 14,710,884 (GRCm39)	F193L	probably damaging	Het
Mybl2	G	A	2: 162,910,135 (GRCm39)	G187E	probably damaging	Het
Myh1	A	T	11: 67,099,929 (GRCm39)	Q613L	probably benign	Het
Myo5a	T	A	9: 75,087,312 (GRCm39)	M1056K	probably benign	Het
Or1e16	T	C	11: 73,285,955 (GRCm39)	K298E	probably damaging	Het
Or4a27	G	A	2: 88,559,799 (GRCm39)	T48I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or8b3b	T	C	9: 38,584,414 (GRCm39)	I109V	probably damaging	Het
Pcdhga12	G	A	18: 37,900,940 (GRCm39)	V591M	probably damaging	Het
Phyhipl	A	G	10: 70,401,116 (GRCm39)	S161P	probably damaging	Het
Pmfbp1	A	G	8: 110,263,205 (GRCm39)	T775A	probably benign	Het
Pou3f3	T	C	1: 42,736,682 (GRCm39)	V126A	unknown	Het
Reg4	A	C	3: 98,143,631 (GRCm39)	K142Q	possibly damaging	Het
Rimoc1	T	C	15: 4,021,336 (GRCm39)	D73G	probably damaging	Het
Sec22c	G	T	9: 121,517,314 (GRCm39)	A199E	probably damaging	Het
Sema3d	C	T	5: 12,603,181 (GRCm39)	P395S	probably damaging	Het
Sh2b2	C	T	5: 136,260,893 (GRCm39)	E108K	possibly damaging	Het
Slfn3	A	G	11: 83,105,616 (GRCm39)	K538E	possibly damaging	Het
Spatc1l	A	T	10: 76,405,200 (GRCm39)	D194V	probably damaging	Het
Stoml3	T	C	3: 53,408,185 (GRCm39)	V77A	possibly damaging	Het
Taco1	A	G	11: 105,963,930 (GRCm39)	I230V	probably benign	Het
Tfcp2	T	C	15: 100,411,934 (GRCm39)	T346A	probably benign	Het
Tmem8b	C	T	4: 43,686,188 (GRCm39)	T273M	probably damaging	Het
Trav6-1	A	G	14: 52,876,299 (GRCm39)	N73S	probably benign	Het
Trav6d-5	A	G	14: 53,033,060 (GRCm39)	D103G	probably damaging	Het
Ttll5	T	A	12: 85,937,806 (GRCm39)	L379Q	probably damaging	Het
Ube3c	T	A	5: 29,803,846 (GRCm39)		probably benign	Het
Ubr3	A	C	2: 69,727,769 (GRCm39)	D44A	probably benign	Het
Upp2	G	T	2: 58,457,443 (GRCm39)	R5L	unknown	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r17	C	T	5: 109,600,712 (GRCm39)	T670I	probably damaging	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	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
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

Predicted Primers

PCR Primer
(F):5'- CGCAGTTCTCTTCAAATACACG -3'
(R):5'- AAGACTACTACGATTTGCAAAGGCT -3'

Sequencing Primer
(F):5'- GTTCTCTTCAAATACACGAAAGAACG -3'
(R):5'- CGATTTGCAAAGGCTTTACCAC -3'

Posted On

2022-03-25