Mutagenetix > Incidental Mutation

Incidental Mutation 'R6810:Zfp748'

533774

Institutional Source

Beutler Lab

Gene Symbol

Zfp748

Ensembl Gene

ENSMUSG00000095432

Gene Name

zinc finger protein 748

Synonyms

KRAB-O, mszf54, Zfp208, 2610014M12Rik

MMRRC Submission

044923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67686758-67701257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67689844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 472 (Y472C)

Ref Sequence

ENSEMBL: ENSMUSP00000137928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000181892]

AlphaFold

Q7TPL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000181892
AA Change: Y472C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: Y472C

Domain	Start	End	E-Value	Type
KRAB	5	65	3.39e-35	SMART
ZnF_C2H2	81	101	1.59e1	SMART
low complexity region	133	144	N/A	INTRINSIC
ZnF_C2H2	165	187	5.14e-3	SMART
ZnF_C2H2	193	215	2.71e-2	SMART
ZnF_C2H2	277	298	7.37e1	SMART
ZnF_C2H2	304	326	1.95e-3	SMART
ZnF_C2H2	332	354	8.94e-3	SMART
ZnF_C2H2	360	382	2.61e-4	SMART
ZnF_C2H2	388	410	5.9e-3	SMART
ZnF_C2H2	416	438	3.44e-4	SMART
ZnF_C2H2	444	466	3.89e-3	SMART
ZnF_C2H2	472	494	4.79e-3	SMART
ZnF_C2H2	500	522	1.6e-4	SMART
ZnF_C2H2	528	550	1.18e-2	SMART
ZnF_C2H2	556	578	1.12e-3	SMART
ZnF_C2H2	584	606	3.89e-3	SMART
ZnF_C2H2	612	634	2.95e-3	SMART
ZnF_C2H2	640	662	1.6e-4	SMART
ZnF_C2H2	668	690	2.95e-3	SMART
ZnF_C2H2	696	718	2.12e-4	SMART
ZnF_C2H2	724	746	4.47e-3	SMART
ZnF_C2H2	752	774	1.12e-3	SMART
ZnF_C2H2	780	802	3.89e-3	SMART
ZnF_C2H2	808	830	1.47e-3	SMART
ZnF_C2H2	836	858	4.87e-4	SMART
ZnF_C2H2	864	886	7.9e-4	SMART

Meta Mutation Damage Score

0.6735

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	T	8: 95,660,570 (GRCm39)	T70S	probably damaging	Het
Adora1	T	C	1: 134,161,777 (GRCm39)	Y106C	probably damaging	Het
Aox3	T	A	1: 58,180,590 (GRCm39)	N250K	probably benign	Het
Ap2b1	A	T	11: 83,226,317 (GRCm39)	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,919,215 (GRCm39)	S2015N	possibly damaging	Het
C7	A	G	15: 5,037,136 (GRCm39)	F581L	probably damaging	Het
Cd27	A	T	6: 125,210,627 (GRCm39)	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,535,456 (GRCm39)	V274A	probably benign	Het
Cenpe	A	G	3: 134,949,583 (GRCm39)	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523 (GRCm39)	L1353P	probably damaging	Het
Dcc	C	T	18: 71,503,764 (GRCm39)	V945M	probably damaging	Het
Dio1	A	G	4: 107,154,922 (GRCm39)	V118A	probably damaging	Het
Dst	C	T	1: 34,251,379 (GRCm39)	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,971,672 (GRCm39)	M165K	probably benign	Het
Eif5b	A	G	1: 38,085,741 (GRCm39)	I929V	probably benign	Het
F5	T	A	1: 164,014,471 (GRCm39)	S581T	probably damaging	Het
Fanca	A	C	8: 124,013,216 (GRCm39)	I761S	probably damaging	Het
Fat2	T	C	11: 55,173,067 (GRCm39)	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,299,929 (GRCm39)	L281P	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm5431	T	C	11: 48,779,803 (GRCm39)	D651G	probably damaging	Het
Hook3	A	C	8: 26,522,450 (GRCm39)		probably null	Het
Ivd	G	T	2: 118,700,242 (GRCm39)	V90L	probably benign	Het
Klhdc7b	A	G	15: 89,272,559 (GRCm39)	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,070,626 (GRCm39)	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,622,476 (GRCm39)	I45F	probably damaging	Het
Nell2	T	C	15: 95,139,468 (GRCm39)	D588G	probably damaging	Het
Nhlrc3	T	C	3: 53,360,996 (GRCm39)	N253S	probably benign	Het
Nlrp4c	T	A	7: 6,069,754 (GRCm39)	F552I	probably damaging	Het
Or51g1	A	C	7: 102,634,042 (GRCm39)	S110A	probably damaging	Het
Or5j3	G	A	2: 86,128,267 (GRCm39)	A36T	probably benign	Het
Pcdhga12	T	C	18: 37,900,232 (GRCm39)	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,848,926 (GRCm39)	Y311F	probably benign	Het
Phldb2	A	G	16: 45,569,088 (GRCm39)		probably null	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Plxna4	A	G	6: 32,287,457 (GRCm39)	V480A	probably benign	Het
Psrc1	A	T	3: 108,292,664 (GRCm39)	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,862,516 (GRCm39)	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,642,760 (GRCm39)		probably null	Het
Semp2l2b	C	T	10: 21,942,616 (GRCm39)	G455R	probably damaging	Het
Skint6	T	C	4: 112,805,577 (GRCm39)		probably null	Het
Slc24a1	A	G	9: 64,855,605 (GRCm39)	V434A	probably benign	Het
Snd1	T	A	6: 28,668,609 (GRCm39)	V432E	probably benign	Het
Syne2	C	T	12: 75,989,659 (GRCm39)	T1847M	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tes	C	A	6: 17,104,651 (GRCm39)	N377K	probably benign	Het
Tfip11	T	A	5: 112,481,463 (GRCm39)	I452N	probably benign	Het
Tgfbi	T	C	13: 56,785,016 (GRCm39)	S658P	probably benign	Het
Tmx4	A	C	2: 134,462,594 (GRCm39)	D112E	probably damaging	Het
Tnn	G	T	1: 159,932,412 (GRCm39)	D1367E	probably damaging	Het
Triobp	A	G	15: 78,850,815 (GRCm39)	N323S	possibly damaging	Het
Usp40	T	C	1: 87,908,755 (GRCm39)	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,600,296 (GRCm39)	K440R	probably benign	Het
Zfp707	T	A	15: 75,846,748 (GRCm39)	L193Q	probably damaging	Het

Other mutations in Zfp748

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02366:Zfp748	APN	13	67,693,546 (GRCm39)	splice site	probably benign
R0440:Zfp748	UTSW	13	67,701,144 (GRCm39)	splice site	probably null
R0790:Zfp748	UTSW	13	67,693,481 (GRCm39)	missense	probably benign	0.03
R1760:Zfp748	UTSW	13	67,693,540 (GRCm39)	critical splice acceptor site	probably null
R2520:Zfp748	UTSW	13	67,694,781 (GRCm39)	missense	possibly damaging	0.84
R3711:Zfp748	UTSW	13	67,688,915 (GRCm39)	missense	probably damaging	1.00
R4157:Zfp748	UTSW	13	67,690,225 (GRCm39)	missense	possibly damaging	0.80
R4288:Zfp748	UTSW	13	67,689,202 (GRCm39)	missense	probably damaging	1.00
R4289:Zfp748	UTSW	13	67,689,202 (GRCm39)	missense	probably damaging	1.00
R5091:Zfp748	UTSW	13	67,689,638 (GRCm39)	missense	probably damaging	1.00
R5441:Zfp748	UTSW	13	67,688,737 (GRCm39)	missense	probably damaging	1.00
R5686:Zfp748	UTSW	13	67,690,647 (GRCm39)	nonsense	probably null
R5907:Zfp748	UTSW	13	67,689,292 (GRCm39)	missense	possibly damaging	0.87
R6210:Zfp748	UTSW	13	67,688,923 (GRCm39)	missense	possibly damaging	0.85
R6268:Zfp748	UTSW	13	67,690,705 (GRCm39)	missense	possibly damaging	0.77
R6639:Zfp748	UTSW	13	67,691,024 (GRCm39)	missense	probably damaging	1.00
R7148:Zfp748	UTSW	13	67,690,358 (GRCm39)	missense	possibly damaging	0.96
R7464:Zfp748	UTSW	13	67,690,091 (GRCm39)	missense	probably damaging	1.00
R7593:Zfp748	UTSW	13	67,690,638 (GRCm39)	missense	probably benign	0.20
R7644:Zfp748	UTSW	13	67,689,568 (GRCm39)	missense	probably damaging	0.99
R7799:Zfp748	UTSW	13	67,689,608 (GRCm39)	missense	probably benign	0.02
R8872:Zfp748	UTSW	13	67,689,914 (GRCm39)	missense	probably damaging	1.00
R9140:Zfp748	UTSW	13	67,689,073 (GRCm39)	missense	probably damaging	1.00
R9402:Zfp748	UTSW	13	67,693,511 (GRCm39)	missense	probably benign	0.33
R9649:Zfp748	UTSW	13	67,690,647 (GRCm39)	nonsense	probably null
R9687:Zfp748	UTSW	13	67,690,471 (GRCm39)	missense	probably benign	0.00
R9749:Zfp748	UTSW	13	67,690,573 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTTTCTCCCCAGTGTGAC -3'
(R):5'- CAAGAGAAACCCTACAAGTGTGAAG -3'

Sequencing Primer
(F):5'- GCCACATATTTCACACTTGTAGGG -3'
(R):5'- CCCTACAAGTGTGAAGTATGTGGC -3'

Posted On

2018-09-12