Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Zfp626'

559549

Institutional Source

Beutler Lab

Gene Symbol

Zfp626

Ensembl Gene

ENSMUSG00000030604

Gene Name

zinc finger protein 626

Synonyms

4933426I21Rik

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

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

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27506621-27522341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27517768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 250 (T250S)

Ref Sequence

ENSEMBL: ENSMUSP00000146286 (fasta)

Gene Model

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

AlphaFold

A0A0U1RQ84

Predicted Effect

probably benign
Transcript: ENSMUST00000080175
AA Change: T176S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079068
Gene: ENSMUSG00000030604
AA Change: T176S

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

probably benign
Transcript: ENSMUST00000205671
AA Change: T250S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,257,722 (GRCm39)	I210N	probably benign	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,339,208 (GRCm39)	V420A	probably benign	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Il20ra	A	T	10: 19,618,689 (GRCm39)	I46F	probably damaging	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Strc	T	G	2: 121,199,507 (GRCm39)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,282,496 (GRCm39)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Tsen34	T	C	7: 3,697,806 (GRCm39)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	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
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
R8318:Zfp626	UTSW	7	27,517,670 (GRCm39)	missense	possibly damaging	0.94
R9698:Zfp626	UTSW	7	27,518,440 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ACAGTGTGGGAAGTGCTTC -3'
(R):5'- ACACTGAAAGGGTCTCTCACC -3'

Sequencing Primer
(F):5'- AGTCAGCATCAGAGTGTTCATGC -3'
(R):5'- GGTCTCTCACCAGAATGAATTTTC -3'

Posted On

2019-06-26