Mutagenetix > Incidental Mutation

Incidental Mutation 'R8318:Zfp626'

641807

Institutional Source

Beutler Lab

Gene Symbol

Zfp626

Ensembl Gene

ENSMUSG00000030604

Gene Name

zinc finger protein 626

Synonyms

4933426I21Rik

MMRRC Submission

067855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8318 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27506621-27522341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27517670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 217 (T217K)

Ref Sequence

ENSEMBL: ENSMUSP00000146286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080175] [ENSMUST00000205671]

AlphaFold

A0A0U1RQ84

Predicted Effect

probably damaging
Transcript: ENSMUST00000080175
AA Change: T143K

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

SMART Domains

Protein: ENSMUSP00000079068
Gene: ENSMUSG00000030604
AA Change: T143K

Domain	Start	End	E-Value	Type
ZnF_C2H2	99	121	1.16e-1	SMART
ZnF_C2H2	127	149	8.98e0	SMART
ZnF_C2H2	155	177	5.42e-2	SMART
ZnF_C2H2	183	205	3.39e-3	SMART
ZnF_C2H2	211	233	3.69e-4	SMART
ZnF_C2H2	239	261	4.72e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205671
AA Change: T217K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	T	C	8: 23,605,567 (GRCm39)	V1145A	probably damaging	Het
Ankrd35	G	A	3: 96,592,038 (GRCm39)	V775M	probably damaging	Het
Ankrd63	C	T	2: 118,533,721 (GRCm39)	V67M	unknown	Het
Arhgef5	T	A	6: 43,252,933 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,734,335 (GRCm39)	Q1152H	probably benign	Het
Carmil1	A	G	13: 24,220,442 (GRCm39)	L1094P	probably benign	Het
Col7a1	G	A	9: 108,787,442 (GRCm39)	A612T	unknown	Het
Csgalnact1	T	C	8: 68,913,785 (GRCm39)	E140G	probably damaging	Het
Ddx18	G	T	1: 121,493,816 (GRCm39)	A56D	probably benign	Het
Dixdc1	T	C	9: 50,595,709 (GRCm39)		probably null	Het
Dpys	G	A	15: 39,648,061 (GRCm39)	T498I	probably benign	Het
Ear6	A	G	14: 52,091,722 (GRCm39)	I90V	probably benign	Het
Egr1	T	C	18: 34,996,663 (GRCm39)	S482P	probably damaging	Het
Ehbp1	C	T	11: 22,087,980 (GRCm39)	R393Q	probably benign	Het
Enpep	A	G	3: 129,063,986 (GRCm39)	I927T	probably damaging	Het
Ermard	C	T	17: 15,242,334 (GRCm39)	T406I	possibly damaging	Het
Etl4	T	C	2: 20,793,341 (GRCm39)	S971P	probably damaging	Het
Fan1	C	A	7: 63,999,803 (GRCm39)	V861F	probably damaging	Het
Fbp1	A	G	13: 63,012,825 (GRCm39)	F328L	probably benign	Het
Fgd5	T	A	6: 91,964,477 (GRCm39)	F237I	probably benign	Het
Fmn1	T	C	2: 113,195,502 (GRCm39)	S401P	unknown	Het
Gabbr1	G	A	17: 37,373,435 (GRCm39)	E444K	probably benign	Het
Htr3b	C	A	9: 48,876,177 (GRCm39)		probably benign	Het
Ighv1-49	A	G	12: 115,019,051 (GRCm39)	F48S	probably damaging	Het
Kcnh4	A	G	11: 100,643,154 (GRCm39)	L371P	probably damaging	Het
Kcnk15	A	G	2: 163,700,189 (GRCm39)	T143A	probably damaging	Het
Klk1b4	T	G	7: 43,860,335 (GRCm39)	S150A	possibly damaging	Het
Krt6a	A	T	15: 101,602,682 (GRCm39)	M1K	probably null	Het
Lama2	G	A	10: 26,860,334 (GRCm39)	S3051L	probably damaging	Het
Lgals4	T	C	7: 28,533,940 (GRCm39)	M38T	probably benign	Het
Mdn1	T	C	4: 32,735,897 (GRCm39)		probably null	Het
Mindy1	A	G	3: 95,199,936 (GRCm39)	S246G	probably damaging	Het
Myo18a	A	G	11: 77,714,215 (GRCm39)	T770A	probably benign	Het
Or13d1	T	C	4: 52,971,104 (GRCm39)	V161A	probably benign	Het
Or4a81	C	T	2: 89,619,321 (GRCm39)	C125Y	possibly damaging	Het
Or4c116	T	A	2: 88,942,242 (GRCm39)	I205F	probably benign	Het
Pcdhb19	T	A	18: 37,630,999 (GRCm39)	S265T	possibly damaging	Het
Pcna	T	C	2: 132,093,348 (GRCm39)	Y133C	probably damaging	Het
Polr2b	A	G	5: 77,483,576 (GRCm39)	E684G	probably benign	Het
Pon2	T	C	6: 5,265,425 (GRCm39)	I321V	probably benign	Het
Prss54	T	A	8: 96,291,094 (GRCm39)	M169L	probably damaging	Het
Rps3	T	A	7: 99,132,938 (GRCm39)		probably benign	Het
Senp1	T	C	15: 97,962,748 (GRCm39)	D312G	probably damaging	Het
Serpina10	T	A	12: 103,583,107 (GRCm39)	T446S	possibly damaging	Het
Slc2a5	A	G	4: 150,224,115 (GRCm39)	D241G	possibly damaging	Het
Slc7a11	A	G	3: 50,372,435 (GRCm39)		probably null	Het
Tgfbrap1	G	C	1: 43,095,829 (GRCm39)	C536W	probably damaging	Het
Trip11	C	T	12: 101,879,063 (GRCm39)	G9S	unknown	Het

Other mutations in Zfp626

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0726:Zfp626	UTSW	7	27,518,048 (GRCm39)	missense	probably damaging	1.00
R0973:Zfp626	UTSW	7	27,517,907 (GRCm39)	missense	probably damaging	0.97
R0973:Zfp626	UTSW	7	27,517,907 (GRCm39)	missense	probably damaging	0.97
R0974:Zfp626	UTSW	7	27,517,907 (GRCm39)	missense	probably damaging	0.97
R3085:Zfp626	UTSW	7	27,517,587 (GRCm39)	missense	probably benign	0.12
R5421:Zfp626	UTSW	7	27,517,335 (GRCm39)	missense	probably damaging	0.97
R6213:Zfp626	UTSW	7	27,507,717 (GRCm39)	missense	probably benign	0.00
R6950:Zfp626	UTSW	7	27,518,339 (GRCm39)	missense	probably damaging	1.00
R7190:Zfp626	UTSW	7	27,517,768 (GRCm39)	missense	probably benign
R7359:Zfp626	UTSW	7	27,507,660 (GRCm39)	missense	probably damaging	1.00
R7547:Zfp626	UTSW	7	27,517,828 (GRCm39)	missense	possibly damaging	0.86
R7783:Zfp626	UTSW	7	27,517,795 (GRCm39)	missense	possibly damaging	0.83
R7889:Zfp626	UTSW	7	27,518,924 (GRCm39)	missense	probably benign	0.03
R7982:Zfp626	UTSW	7	27,510,175 (GRCm39)	critical splice acceptor site	probably null
R8011:Zfp626	UTSW	7	27,518,140 (GRCm39)	missense	possibly damaging	0.85
R9698:Zfp626	UTSW	7	27,518,440 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTGTCAGGAAGGAGATGCTG -3'
(R):5'- TGTGTGCAACAAGGTTGGAG -3'

Sequencing Primer
(F):5'- CTGGCCAGCAGGTTACTAAG -3'
(R):5'- GAGACACGGTTGAAGATCTTCCC -3'

Posted On

2020-07-28