Mutagenetix > Incidental Mutation

Incidental Mutation 'R8362:Zfp623'

646020

Institutional Source

Beutler Lab

Gene Symbol

Zfp623

Ensembl Gene

ENSMUSG00000050846

Gene Name

zinc finger protein 623

Synonyms

2610029D06Rik

MMRRC Submission

067808-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R8362 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75812801-75821249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75819488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 148 (V148A)

Ref Sequence

ENSEMBL: ENSMUSP00000036049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037260]

AlphaFold

Q9CY99

Predicted Effect

probably damaging
Transcript: ENSMUST00000037260
AA Change: V148A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036049
Gene: ENSMUSG00000050846
AA Change: V148A

Domain	Start	End	E-Value	Type
ZnF_C2H2	119	141	5.59e-4	SMART
ZnF_C2H2	147	169	9.96e-1	SMART
ZnF_C2H2	175	197	2.4e-3	SMART
ZnF_C2H2	203	225	6.42e-4	SMART
ZnF_C2H2	231	253	1.3e-4	SMART
ZnF_C2H2	259	281	1.3e-4	SMART
ZnF_C2H2	287	309	1.28e-3	SMART
ZnF_C2H2	315	337	3.21e-4	SMART
ZnF_C2H2	343	365	3.39e-3	SMART
ZnF_C2H2	371	393	4.87e-4	SMART
ZnF_C2H2	399	421	2.53e-2	SMART
ZnF_C2H2	427	449	3.95e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	A	19: 8,867,395 (GRCm39)	S65T	probably damaging	Het
Abcb1b	A	T	5: 8,848,758 (GRCm39)	N6I	probably benign	Het
Abr	A	T	11: 76,369,954 (GRCm39)	I145N	probably benign	Het
Alcam	A	T	16: 52,115,387 (GRCm39)	Y244N	probably damaging	Het
Amotl1	G	A	9: 14,556,218 (GRCm39)	A36V	probably benign	Het
Ankrd11	A	T	8: 123,618,797 (GRCm39)	L1685Q	probably damaging	Het
Ascc3	A	C	10: 50,518,692 (GRCm39)	Q332H	possibly damaging	Het
Cdc42bpa	C	T	1: 179,989,690 (GRCm39)	L1720F	probably damaging	Het
Clec4b1	T	C	6: 123,027,602 (GRCm39)	S20P	probably benign	Het
Cpt1a	C	T	19: 3,420,744 (GRCm39)	R401*	probably null	Het
Dnah12	T	A	14: 26,576,788 (GRCm39)	Y3013N	probably damaging	Het
Dop1a	G	A	9: 86,395,941 (GRCm39)	R801H	probably benign	Het
Flywch1	G	T	17: 23,975,682 (GRCm39)	T520N	probably damaging	Het
Fndc1	A	G	17: 8,001,207 (GRCm39)	S190P	unknown	Het
Gabra1	G	T	11: 42,066,831 (GRCm39)	Q28K	probably benign	Het
Gria2	T	C	3: 80,615,197 (GRCm39)	M428V	possibly damaging	Het
H13	T	A	2: 152,528,311 (GRCm39)	I220N	unknown	Het
Hars2	T	A	18: 36,923,228 (GRCm39)	F412L	probably benign	Het
Hecw2	A	T	1: 54,079,650 (GRCm39)	M1K	probably null	Het
Homer1	T	A	13: 93,502,797 (GRCm39)	S192T	unknown	Het
Itga2b	T	A	11: 102,352,189 (GRCm39)	D464V	probably damaging	Het
Ivd	T	A	2: 118,708,422 (GRCm39)	C379S	probably damaging	Het
Khdc3	A	T	9: 73,010,848 (GRCm39)	N233Y	possibly damaging	Het
Lrrc37	A	G	11: 103,506,163 (GRCm39)	V1935A	probably benign	Het
Lrrfip1	T	A	1: 90,981,423 (GRCm39)	L15Q	probably damaging	Het
Megf8	C	A	7: 25,039,943 (GRCm39)	P986Q	probably benign	Het
Morc2b	G	T	17: 33,357,295 (GRCm39)	T159K	possibly damaging	Het
Nudt5	A	G	2: 5,858,322 (GRCm39)		probably null	Het
Or6c211	G	T	10: 129,506,100 (GRCm39)	A96E	possibly damaging	Het
Paqr5	A	T	9: 61,879,945 (GRCm39)	Y116*	probably null	Het
Pcnx1	A	C	12: 82,013,830 (GRCm39)	S623R		Het
Polr1a	T	C	6: 71,941,651 (GRCm39)	V1053A	probably benign	Het
Ptprt	A	T	2: 161,393,667 (GRCm39)	D1252E	probably damaging	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rasal1	C	T	5: 120,813,485 (GRCm39)	R620W	probably damaging	Het
Rbms1	C	T	2: 60,793,083 (GRCm39)	M9I	probably benign	Het
Ska3	T	C	14: 58,054,105 (GRCm39)	N282D	probably benign	Het
Slc25a24	T	A	3: 109,065,878 (GRCm39)	I245N	possibly damaging	Het
Slc26a4	C	T	12: 31,594,506 (GRCm39)	V281I	probably benign	Het
Smg8	A	T	11: 86,968,881 (GRCm39)	Y958*	probably null	Het
Spata31	A	G	13: 65,070,044 (GRCm39)	T731A	possibly damaging	Het
Spg11	G	T	2: 121,948,842 (GRCm39)	A3D	unknown	Het
Srgap1	A	G	10: 121,691,383 (GRCm39)	Y284H	possibly damaging	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Tnxb	A	G	17: 34,931,946 (GRCm39)	T2160A	probably damaging	Het
Tprg1l	G	C	4: 154,244,815 (GRCm39)	T91S	possibly damaging	Het
Ush2a	G	A	1: 188,689,650 (GRCm39)	V5071I	probably damaging	Het
Vmn2r60	T	A	7: 41,844,954 (GRCm39)	N772K	probably damaging	Het
Vmn2r81	T	A	10: 79,103,283 (GRCm39)	W159R	probably benign	Het
Vmn2r93	G	A	17: 18,546,353 (GRCm39)	V742I	probably benign	Het
Zc3h13	C	A	14: 75,561,909 (GRCm39)	H654N	unknown	Het
Zfp516	T	C	18: 83,005,019 (GRCm39)	L641P	probably benign	Het

Other mutations in Zfp623

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Zfp623	APN	15	75,820,052 (GRCm39)	missense	probably damaging	1.00
IGL01524:Zfp623	APN	15	75,819,528 (GRCm39)	missense	probably benign
IGL01927:Zfp623	APN	15	75,819,354 (GRCm39)	missense	possibly damaging	0.57
IGL03199:Zfp623	APN	15	75,819,119 (GRCm39)	missense	probably benign	0.40
R0076:Zfp623	UTSW	15	75,819,058 (GRCm39)	missense	probably benign
R0352:Zfp623	UTSW	15	75,820,433 (GRCm39)	missense	probably benign	0.00
R0360:Zfp623	UTSW	15	75,820,510 (GRCm39)	missense	probably benign
R0364:Zfp623	UTSW	15	75,820,510 (GRCm39)	missense	probably benign
R1783:Zfp623	UTSW	15	75,819,760 (GRCm39)	missense	probably damaging	0.99
R2219:Zfp623	UTSW	15	75,819,379 (GRCm39)	missense	possibly damaging	0.90
R5975:Zfp623	UTSW	15	75,820,012 (GRCm39)	missense	probably benign	0.43
R6161:Zfp623	UTSW	15	75,820,470 (GRCm39)	missense	probably benign	0.22
R6342:Zfp623	UTSW	15	75,819,837 (GRCm39)	nonsense	probably null
R6490:Zfp623	UTSW	15	75,820,308 (GRCm39)	missense	probably damaging	1.00
R6513:Zfp623	UTSW	15	75,819,317 (GRCm39)	missense	probably benign
R7028:Zfp623	UTSW	15	75,820,154 (GRCm39)	missense	probably damaging	0.99
R7399:Zfp623	UTSW	15	75,819,247 (GRCm39)	missense	probably damaging	0.98
R7716:Zfp623	UTSW	15	75,820,271 (GRCm39)	missense	probably damaging	1.00
R8445:Zfp623	UTSW	15	75,819,402 (GRCm39)	nonsense	probably null
R9028:Zfp623	UTSW	15	75,819,349 (GRCm39)	missense	probably damaging	0.97
R9035:Zfp623	UTSW	15	75,820,162 (GRCm39)	missense	possibly damaging	0.93
R9310:Zfp623	UTSW	15	75,819,949 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCATAGATGCGGAGGC -3'
(R):5'- GCGGATAAGGCTTGAACTCC -3'

Sequencing Primer
(F):5'- AGGCCCGTTCCTGTGGTG -3'
(R):5'- CTTGAACTCCGAATGAAGGATTTCCC -3'

Posted On

2020-09-02