Mutagenetix > Incidental Mutation

Incidental Mutation 'R3932:Zfp422'

308498

Institutional Source

Beutler Lab

Gene Symbol

Zfp422

Ensembl Gene

ENSMUSG00000059878

Gene Name

zinc finger protein 422

Synonyms

KOX15, Krox-25-2, Krox25, Krox26, Krox-26, 2900028O21Rik

MMRRC Submission

040919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3932 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116600977-116605960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116603420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 193 (K193R)

Ref Sequence

ENSEMBL: ENSMUSP00000108501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057540] [ENSMUST00000079749] [ENSMUST00000112880]

AlphaFold

Q9ERU3

Predicted Effect

probably benign
Transcript: ENSMUST00000057540
AA Change: K193R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000084926
Gene: ENSMUSG00000059878
AA Change: K193R

Domain	Start	End	E-Value	Type
ZnF_C2H2	55	77	6.32e-3	SMART
ZnF_C2H2	83	105	6.32e-3	SMART
ZnF_C2H2	111	133	1.06e-4	SMART
ZnF_C2H2	139	161	2.53e-2	SMART
ZnF_C2H2	167	189	2.12e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079749
AA Change: K193R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078685
Gene: ENSMUSG00000059878
AA Change: K193R

Domain	Start	End	E-Value	Type
ZnF_C2H2	55	77	6.32e-3	SMART
ZnF_C2H2	83	105	6.32e-3	SMART
ZnF_C2H2	111	133	1.06e-4	SMART
ZnF_C2H2	139	161	2.53e-2	SMART
ZnF_C2H2	167	189	2.12e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112880
AA Change: K193R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108501
Gene: ENSMUSG00000059878
AA Change: K193R

Domain	Start	End	E-Value	Type
ZnF_C2H2	55	77	6.32e-3	SMART
ZnF_C2H2	83	105	6.32e-3	SMART
ZnF_C2H2	111	133	1.06e-4	SMART
ZnF_C2H2	139	161	2.53e-2	SMART
ZnF_C2H2	167	189	2.12e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204559

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: This gene encodes a putative C2H2 zinc finger transcription factor that may play a role in tooth development. A pseudogene related to this gene is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Arl1	C	T	10: 88,569,398 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10a	T	C	7: 58,476,852 (GRCm39)	M1189T	possibly damaging	Het
Bcl2l14	A	G	6: 134,400,771 (GRCm39)	D64G	probably damaging	Het
Cdc34b	G	A	11: 94,633,441 (GRCm39)	V214M	probably benign	Het
Cfap54	T	C	10: 92,665,619 (GRCm39)	T2985A	probably benign	Het
Clcc1	T	C	3: 108,580,682 (GRCm39)	M332T	probably damaging	Het
Coch	T	C	12: 51,650,121 (GRCm39)	I370T	probably damaging	Het
Ctdnep1	A	G	11: 69,880,400 (GRCm39)		probably benign	Het
Edar	C	T	10: 58,446,164 (GRCm39)	C221Y	probably damaging	Het
Fam135b	T	A	15: 71,322,280 (GRCm39)	Q1295L	probably benign	Het
Fam184a	C	T	10: 53,575,397 (GRCm39)	A71T	probably damaging	Het
Fbxw10	A	G	11: 62,759,983 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,542,071 (GRCm39)	W247R	probably damaging	Het
Gcn1	A	G	5: 115,725,893 (GRCm39)	H553R	probably benign	Het
Grin3a	C	T	4: 49,672,472 (GRCm39)		probably null	Het
H2-Q6	C	T	17: 35,644,542 (GRCm39)		probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspg2	T	C	4: 137,242,879 (GRCm39)	V670A	probably damaging	Het
Med10	A	G	13: 69,958,101 (GRCm39)	N18D	probably damaging	Het
Mgat4b	T	A	11: 50,124,165 (GRCm39)	H368Q	possibly damaging	Het
Morn5	C	A	2: 35,943,035 (GRCm39)	T45N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msl3	C	T	X: 167,454,813 (GRCm39)	A87T	probably damaging	Het
Myrf	T	C	19: 10,195,515 (GRCm39)	T432A	probably damaging	Het
Nalf2	G	A	X: 98,865,470 (GRCm39)	V266M	possibly damaging	Het
Nav3	T	A	10: 109,529,896 (GRCm39)	E2148D	probably damaging	Het
Nfe2l3	A	G	6: 51,433,595 (GRCm39)	T236A	possibly damaging	Het
Odc1	T	A	12: 17,598,801 (GRCm39)	F227Y	probably benign	Het
Opa1	A	T	16: 29,429,698 (GRCm39)	E401D	probably damaging	Het
Or5b21	T	C	19: 12,839,994 (GRCm39)	M285T	possibly damaging	Het
Pdcd1	T	C	1: 93,968,989 (GRCm39)	I110V	probably benign	Het
Pde5a	G	A	3: 122,554,545 (GRCm39)	E212K	probably damaging	Het
Plin4	A	G	17: 56,413,704 (GRCm39)	I307T	probably benign	Het
Rag1	T	C	2: 101,473,384 (GRCm39)	Y586C	probably damaging	Het
Rgs7bp	T	C	13: 105,189,506 (GRCm39)	M98V	probably benign	Het
Rgs9	A	G	11: 109,166,639 (GRCm39)		probably benign	Het
Rin3	A	G	12: 102,356,342 (GRCm39)	D961G	probably damaging	Het
Rubcn	A	G	16: 32,649,629 (GRCm39)		probably null	Het
Slc13a2	T	A	11: 78,289,226 (GRCm39)	Y495F	probably damaging	Het
Tfec	T	A	6: 16,845,458 (GRCm39)	D67V	probably damaging	Het
Tmem94	T	C	11: 115,680,080 (GRCm39)	M30T	probably benign	Het
Tsbp1	A	G	17: 34,662,417 (GRCm39)	T86A	possibly damaging	Het
Tubgcp6	A	G	15: 88,988,617 (GRCm39)		probably benign	Het
Vmn2r10	C	A	5: 109,150,088 (GRCm39)	A319S	possibly damaging	Het
Vmn2r85	T	C	10: 130,254,336 (GRCm39)	M783V	probably damaging	Het
Zfp94	T	G	7: 24,003,112 (GRCm39)	D110A	probably benign	Het

Other mutations in Zfp422

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Zfp422	APN	6	116,603,919 (GRCm39)	missense	probably benign	0.00
IGL00659:Zfp422	APN	6	116,603,466 (GRCm39)	nonsense	probably null
IGL03199:Zfp422	APN	6	116,603,912 (GRCm39)	missense	probably benign	0.43
R0190:Zfp422	UTSW	6	116,603,572 (GRCm39)	missense	probably damaging	1.00
R1572:Zfp422	UTSW	6	116,603,745 (GRCm39)	missense	probably damaging	1.00
R1756:Zfp422	UTSW	6	116,603,385 (GRCm39)	missense	probably benign	0.00
R2290:Zfp422	UTSW	6	116,603,603 (GRCm39)	missense	possibly damaging	0.74
R3724:Zfp422	UTSW	6	116,603,340 (GRCm39)	missense	probably benign	0.00
R3933:Zfp422	UTSW	6	116,603,420 (GRCm39)	missense	probably benign	0.00
R4700:Zfp422	UTSW	6	116,603,844 (GRCm39)	missense	possibly damaging	0.59
R4806:Zfp422	UTSW	6	116,603,623 (GRCm39)	missense	probably damaging	1.00
R4957:Zfp422	UTSW	6	116,603,904 (GRCm39)	nonsense	probably null
R5784:Zfp422	UTSW	6	116,603,771 (GRCm39)	missense	probably damaging	1.00
R6361:Zfp422	UTSW	6	116,603,781 (GRCm39)	missense	probably damaging	1.00
R8303:Zfp422	UTSW	6	116,603,612 (GRCm39)	missense	probably damaging	1.00
R9089:Zfp422	UTSW	6	116,604,086 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAAGCATCCACTCTTCGGAG -3'
(R):5'- AGAGATTCAAGCAGAGCTCC -3'

Sequencing Primer
(F):5'- ACTCTTCGGAGCGGCTTTC -3'
(R):5'- GAGATTCAAGCAGAGCTCCAATCTC -3'

Posted On

2015-04-17