Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Zfp954'

589753

Institutional Source

Beutler Lab

Gene Symbol

Zfp954

Ensembl Gene

ENSMUSG00000062116

Gene Name

zinc finger protein 954

Synonyms

5730403M16Rik

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7117682-7124475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7118823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 240 (F240L)

Ref Sequence

ENSEMBL: ENSMUSP00000072585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056246]

AlphaFold

Q7TNU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056246
AA Change: F240L

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072585
Gene: ENSMUSG00000062116
AA Change: F240L

Domain	Start	End	E-Value	Type
KRAB	42	102	4.6e-14	SMART
ZnF_C2H2	198	220	5.14e-3	SMART
ZnF_C2H2	226	248	3.21e-4	SMART
ZnF_C2H2	254	276	3.63e-3	SMART
ZnF_C2H2	282	304	7.9e-4	SMART
ZnF_C2H2	310	332	1.69e-3	SMART
ZnF_C2H2	338	360	1.26e-2	SMART
ZnF_C2H2	364	386	2.01e-5	SMART
ZnF_C2H2	392	414	1.26e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het

Other mutations in Zfp954

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Zfp954	APN	7	7,118,366 (GRCm39)	missense	probably benign	0.01
IGL01696:Zfp954	APN	7	7,118,397 (GRCm39)	missense	probably damaging	1.00
R0196:Zfp954	UTSW	7	7,118,390 (GRCm39)	missense	probably damaging	1.00
R1723:Zfp954	UTSW	7	7,118,837 (GRCm39)	missense	probably benign	0.04
R2112:Zfp954	UTSW	7	7,118,609 (GRCm39)	missense	probably damaging	1.00
R2255:Zfp954	UTSW	7	7,118,321 (GRCm39)	missense	possibly damaging	0.84
R2410:Zfp954	UTSW	7	7,120,808 (GRCm39)	missense	probably benign	0.03
R5118:Zfp954	UTSW	7	7,118,714 (GRCm39)	missense	probably benign	0.05
R5191:Zfp954	UTSW	7	7,119,022 (GRCm39)	missense	probably damaging	0.96
R5832:Zfp954	UTSW	7	7,118,389 (GRCm39)	missense	probably damaging	0.97
R5851:Zfp954	UTSW	7	7,118,624 (GRCm39)	nonsense	probably null
R7646:Zfp954	UTSW	7	7,118,720 (GRCm39)	missense	possibly damaging	0.65
R7710:Zfp954	UTSW	7	7,120,889 (GRCm39)	missense	probably damaging	1.00
R8079:Zfp954	UTSW	7	7,118,470 (GRCm39)	missense	probably benign	0.02
R9054:Zfp954	UTSW	7	7,119,097 (GRCm39)	missense	probably benign	0.15
R9192:Zfp954	UTSW	7	7,118,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCGGAGTTCTGGGTGAAATAC -3'
(R):5'- TCAGGCATCAGGTGACTTCC -3'

Sequencing Primer
(F):5'- GAAATGATTCAGAAGGCCCTCTCTG -3'
(R):5'- CATCAGGTGACTTCCAGTGG -3'

Posted On

2019-10-24