Mutagenetix > Incidental Mutation

Incidental Mutation 'R8014:Zfp750'

617086

Institutional Source

Beutler Lab

Gene Symbol

Zfp750

Ensembl Gene

ENSMUSG00000039238

Gene Name

zinc finger protein 750

Synonyms

A030007D23Rik

MMRRC Submission

067454-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R8014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121401804-121410159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121403843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 344 (D344V)

Ref Sequence

ENSEMBL: ENSMUSP00000089951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092298] [ENSMUST00000103013]

AlphaFold

Q8BH05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092298
AA Change: D344V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: D344V

Domain	Start	End	E-Value	Type
ZnF_C2H2	25	45	2.12e1	SMART
low complexity region	352	362	N/A	INTRINSIC
low complexity region	689	702	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103013

SMART Domains

Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	45	62	N/A	INTRINSIC
SCOP:d1b3ua_	357	742	4e-20	SMART
Pfam:TFCD_C	900	1090	1.4e-74	PFAM
low complexity region	1113	1120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125167

SMART Domains

Protein: ENSMUSP00000124735
Gene: ENSMUSG00000039230

Domain	Start	End	E-Value	Type
low complexity region	36	58	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Aff1	A	G	5: 103,981,735 (GRCm39)	T625A	possibly damaging	Het
Aldh8a1	T	C	10: 21,265,201 (GRCm39)	V276A	probably benign	Het
Alkbh3	T	C	2: 93,831,858 (GRCm39)	D124G	probably benign	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Atp13a1	C	T	8: 70,252,429 (GRCm39)	R608*	probably null	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna2d1	A	T	5: 16,547,689 (GRCm39)	T647S	possibly damaging	Het
Carmil1	T	C	13: 24,220,304 (GRCm39)	E1140G	possibly damaging	Het
Ccdc158	C	A	5: 92,796,889 (GRCm39)	E482D	probably damaging	Het
Ccdc92	A	T	5: 124,913,090 (GRCm39)	H146Q	probably damaging	Het
Cntnap4	T	A	8: 113,480,577 (GRCm39)	N341K	probably damaging	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
D130043K22Rik	A	T	13: 25,040,685 (GRCm39)	I36F	probably damaging	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Eef1ece2	A	T	16: 20,461,067 (GRCm39)	T618S	probably benign	Het
Ext1	T	C	15: 52,939,283 (GRCm39)	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,576,332 (GRCm39)	E142D	possibly damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gars1	T	A	6: 55,050,392 (GRCm39)	F551Y	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Gm9758	A	G	5: 14,961,454 (GRCm39)	V175A	possibly damaging	Het
Gpr182	T	C	10: 127,586,874 (GRCm39)	T26A	possibly damaging	Het
Gpr19	A	G	6: 134,846,436 (GRCm39)	Y416H	probably damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Itgb7	T	A	15: 102,131,087 (GRCm39)	S322C	probably damaging	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Morc2a	T	C	11: 3,627,419 (GRCm39)	S281P	probably damaging	Het
Muc16	T	C	9: 18,566,171 (GRCm39)	H2116R	unknown	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Omg	T	C	11: 79,393,729 (GRCm39)	D43G	possibly damaging	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or4c122	T	A	2: 89,079,343 (GRCm39)	I220F	probably damaging	Het
Or4c3	C	A	2: 89,852,087 (GRCm39)	V108F	possibly damaging	Het
Or5b3	A	T	19: 13,388,175 (GRCm39)	T81S	not run	Het
Or5w22	A	T	2: 87,362,508 (GRCm39)	M44L	probably benign	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Pds5a	A	G	5: 65,785,082 (GRCm39)	I930T	possibly damaging	Het
Piezo2	C	T	18: 63,216,271 (GRCm39)	G1169S	probably benign	Het
Pkhd1	A	G	1: 20,579,115 (GRCm39)		probably null	Het
Plekhg1	A	T	10: 3,907,758 (GRCm39)	R947W		Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Rin3	T	A	12: 102,327,630 (GRCm39)	L193*	probably null	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stab2	C	A	10: 86,686,767 (GRCm39)	S2259I	possibly damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tmem108	A	T	9: 103,376,606 (GRCm39)	I281N	probably benign	Het
Usp31	T	C	7: 121,248,480 (GRCm39)	S988G	probably damaging	Het
Usp44	G	T	10: 93,688,571 (GRCm39)		probably null	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp599	A	G	9: 22,160,777 (GRCm39)	Y463H	probably benign	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly damaging	Het

Other mutations in Zfp750

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Zfp750	APN	11	121,403,922 (GRCm39)	missense	probably benign	0.07
IGL01450:Zfp750	APN	11	121,403,855 (GRCm39)	missense	probably benign
IGL01467:Zfp750	APN	11	121,403,767 (GRCm39)	nonsense	probably null
IGL01538:Zfp750	APN	11	121,402,991 (GRCm39)	missense	probably benign	0.02
IGL01732:Zfp750	APN	11	121,403,819 (GRCm39)	missense	probably benign	0.01
IGL01793:Zfp750	APN	11	121,404,810 (GRCm39)	missense	probably damaging	1.00
IGL02004:Zfp750	APN	11	121,402,975 (GRCm39)	missense	probably benign	0.00
IGL02334:Zfp750	APN	11	121,402,837 (GRCm39)	missense	probably benign	0.03
IGL02441:Zfp750	APN	11	121,404,455 (GRCm39)	missense	probably benign	0.00
IGL03173:Zfp750	APN	11	121,404,651 (GRCm39)	nonsense	probably null
IGL03229:Zfp750	APN	11	121,403,778 (GRCm39)	missense	possibly damaging	0.87
IGL03244:Zfp750	APN	11	121,404,513 (GRCm39)	nonsense	probably null
IGL03351:Zfp750	APN	11	121,404,173 (GRCm39)	missense	probably damaging	1.00
IGL03390:Zfp750	APN	11	121,402,770 (GRCm39)	nonsense	probably null
P0016:Zfp750	UTSW	11	121,404,804 (GRCm39)	nonsense	probably null
R0800:Zfp750	UTSW	11	121,402,838 (GRCm39)	missense	probably benign
R0900:Zfp750	UTSW	11	121,403,807 (GRCm39)	missense	probably benign	0.31
R1444:Zfp750	UTSW	11	121,402,873 (GRCm39)	missense	probably damaging	1.00
R1470:Zfp750	UTSW	11	121,402,819 (GRCm39)	missense	probably benign
R1470:Zfp750	UTSW	11	121,402,819 (GRCm39)	missense	probably benign
R2008:Zfp750	UTSW	11	121,403,951 (GRCm39)	missense	possibly damaging	0.92
R2009:Zfp750	UTSW	11	121,403,951 (GRCm39)	missense	possibly damaging	0.92
R2134:Zfp750	UTSW	11	121,404,758 (GRCm39)	missense	probably damaging	1.00
R2415:Zfp750	UTSW	11	121,403,305 (GRCm39)	missense	probably benign	0.01
R2912:Zfp750	UTSW	11	121,403,153 (GRCm39)	missense	probably benign	0.00
R3611:Zfp750	UTSW	11	121,402,981 (GRCm39)	missense	probably benign	0.03
R4648:Zfp750	UTSW	11	121,402,706 (GRCm39)	missense	probably benign	0.00
R5068:Zfp750	UTSW	11	121,403,021 (GRCm39)	missense	probably benign	0.02
R5487:Zfp750	UTSW	11	121,404,558 (GRCm39)	missense	probably benign	0.00
R7953:Zfp750	UTSW	11	121,402,706 (GRCm39)	missense	probably benign	0.00
R8013:Zfp750	UTSW	11	121,403,843 (GRCm39)	missense	possibly damaging	0.83
R8043:Zfp750	UTSW	11	121,402,706 (GRCm39)	missense	probably benign	0.00
R8351:Zfp750	UTSW	11	121,404,135 (GRCm39)	missense	probably benign	0.01
R8451:Zfp750	UTSW	11	121,404,135 (GRCm39)	missense	probably benign	0.01
R8694:Zfp750	UTSW	11	121,404,456 (GRCm39)	missense	possibly damaging	0.57
R9029:Zfp750	UTSW	11	121,403,149 (GRCm39)	missense	probably benign	0.08
R9128:Zfp750	UTSW	11	121,404,674 (GRCm39)	missense	probably benign	0.30
R9166:Zfp750	UTSW	11	121,403,980 (GRCm39)	missense	probably damaging	1.00
R9429:Zfp750	UTSW	11	121,404,693 (GRCm39)	missense	probably damaging	1.00
X0057:Zfp750	UTSW	11	121,404,104 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGCCTTCGAATGTTTGGC -3'
(R):5'- GGCCAATTCCCAAGCACTTG -3'

Sequencing Primer
(F):5'- CCTTCGAATGTTTGGCTTGTTTG -3'
(R):5'- TTGAACACATCCCCATCAACATATG -3'

Posted On

2020-01-23