Mutagenetix > Incidental Mutation

Incidental Mutation 'R3933:Zfp422'

308553

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

040920-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3933 (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

96% (43/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,304,856 (GRCm39)	F3350L	probably damaging	Het
Acp6	T	C	3: 97,073,499 (GRCm39)	V146A	probably benign	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Arhgef33	A	G	17: 80,680,749 (GRCm39)	I630V	probably benign	Het
Astn2	G	A	4: 66,322,192 (GRCm39)	R136C	unknown	Het
Bcl2l14	A	G	6: 134,400,771 (GRCm39)	D64G	probably damaging	Het
C1rl	T	A	6: 124,485,781 (GRCm39)	L384*	probably null	Het
Ccdc6	TCCGCCGCCGCC	TCCGCCGCC	10: 70,025,000 (GRCm39)		probably benign	Het
Coch	T	C	12: 51,650,121 (GRCm39)	I370T	probably damaging	Het
Ercc5	T	A	1: 44,207,016 (GRCm39)	M643K	probably benign	Het
Fut8	A	C	12: 77,522,033 (GRCm39)	K557N	probably damaging	Het
Hsdl2	T	C	4: 59,597,274 (GRCm39)	Y88H	probably damaging	Het
Hspg2	T	C	4: 137,242,879 (GRCm39)	V670A	probably damaging	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Lepr	T	C	4: 101,622,498 (GRCm39)		probably benign	Het
Matn2	T	C	15: 34,345,566 (GRCm39)		probably null	Het
Mei1	A	G	15: 81,967,353 (GRCm39)	K310E	possibly 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
Nalf2	G	A	X: 98,865,470 (GRCm39)	V266M	possibly damaging	Het
Ogdh	T	C	11: 6,292,601 (GRCm39)	V438A	possibly damaging	Het
Opa1	A	T	16: 29,429,698 (GRCm39)	E401D	probably damaging	Het
Or4f17-ps1	T	C	2: 111,358,300 (GRCm39)	Y232H	probably damaging	Het
Or5aq6	T	A	2: 86,923,106 (GRCm39)	I212F	probably benign	Het
Parp2	G	A	14: 51,056,844 (GRCm39)	V323M	probably benign	Het
Pip5k1a	A	G	3: 94,979,314 (GRCm39)	S161P	probably benign	Het
Pold3	T	C	7: 99,770,608 (GRCm39)	E8G	probably damaging	Het
Pomt1	G	A	2: 32,135,631 (GRCm39)	V332I	probably benign	Het
Ppp2ca	T	A	11: 52,010,089 (GRCm39)	N232K	probably damaging	Het
Prune2	A	T	19: 17,101,318 (GRCm39)	D2274V	probably damaging	Het
Pwwp2b	G	A	7: 138,835,950 (GRCm39)	V464I	possibly damaging	Het
Rgs7bp	T	C	13: 105,189,506 (GRCm39)	M98V	probably benign	Het
Rubcn	A	G	16: 32,649,629 (GRCm39)		probably null	Het
Scai	A	T	2: 38,965,064 (GRCm39)	D593E	probably benign	Het
Slc24a2	T	C	4: 87,094,422 (GRCm39)	T366A	probably benign	Het
Sp100	A	G	1: 85,608,830 (GRCm39)	I320V	probably benign	Het
Syngr2	C	A	11: 117,704,243 (GRCm39)	P206Q	probably damaging	Het
Tatdn3	A	T	1: 190,778,521 (GRCm39)		probably null	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Vmn2r10	C	A	5: 109,150,088 (GRCm39)	A319S	possibly damaging	Het
Vmn2r11	C	T	5: 109,201,260 (GRCm39)	A415T	probably damaging	Het
Vmn2r88	A	G	14: 51,651,435 (GRCm39)	M258V	probably benign	Het
Wiz	G	A	17: 32,576,872 (GRCm39)	R561C	probably damaging	Het
Yju2b	G	A	8: 84,986,981 (GRCm39)	A172V	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
R3932: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'- AAAGCATCCACTCTTCGGAG -3'
(R):5'- GAGATTCAAGCAGAGCTCCAATC -3'

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

Posted On

2015-04-17