Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Zfp748'

460737

Institutional Source

Beutler Lab

Gene Symbol

Zfp748

Ensembl Gene

ENSMUSG00000095432

Gene Name

zinc finger protein 748

Synonyms

2610014M12Rik, mszf54, Zfp208, KRAB-O

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67538641-67553830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67541173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 656 (K656R)

Ref Sequence

ENSEMBL: ENSMUSP00000137928 (fasta)

Gene Model

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

AlphaFold

Q7TPL6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000053289

SMART Domains

Protein: ENSMUSP00000080439
Gene: ENSMUSG00000095432

Domain	Start	End	E-Value	Type
KRAB	5	65	3.39e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181892
AA Change: K656R

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: K656R

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,306,822 (GRCm38)	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827 (GRCm38)	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906 (GRCm38)	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910 (GRCm38)	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228 (GRCm38)	T291A	possibly damaging	Het
AI182371	G	T	2: 35,086,122 (GRCm38)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,801,784 (GRCm38)		probably benign	Het
Ak5	T	C	3: 152,615,952 (GRCm38)	D266G	probably damaging	Het
Ank1	A	T	8: 23,140,204 (GRCm38)	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917 (GRCm38)	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222 (GRCm38)	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797 (GRCm38)	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719 (GRCm38)	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379 (GRCm38)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642 (GRCm38)		probably benign	Het
Csmd2	C	T	4: 128,197,385 (GRCm38)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371 (GRCm38)		probably benign	Het
Dnpep	C	T	1: 75,311,991 (GRCm38)		probably null	Het
Dop1b	A	T	16: 93,801,581 (GRCm38)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920 (GRCm38)	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112 (GRCm38)		probably null	Het
Ero1b	T	A	13: 12,600,318 (GRCm38)	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543 (GRCm38)	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254 (GRCm38)		probably null	Het
Fap	A	T	2: 62,544,356 (GRCm38)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337 (GRCm38)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383 (GRCm38)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503 (GRCm38)	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156 (GRCm38)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097 (GRCm38)	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754 (GRCm38)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278 (GRCm38)		probably benign	Het
Ift140	A	G	17: 25,092,371 (GRCm38)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578 (GRCm38)		probably null	Het
Itga4	C	T	2: 79,322,656 (GRCm38)	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981 (GRCm38)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893 (GRCm38)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577 (GRCm38)		probably null	Het
Klk15	A	G	7: 43,938,759 (GRCm38)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706 (GRCm38)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293 (GRCm38)		probably benign	Het
Laptm4b	A	G	15: 34,258,684 (GRCm38)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,434,097 (GRCm38)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,381,503 (GRCm38)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050 (GRCm38)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791 (GRCm38)		probably benign	Het
Nup133	A	G	8: 123,916,299 (GRCm38)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983 (GRCm38)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,993,957 (GRCm38)	H188R	probably benign	Het
Or6n1	T	C	1: 174,089,219 (GRCm38)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,385,874 (GRCm38)	S181R	probably damaging	Het
Osbp	C	T	19: 11,973,876 (GRCm38)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,066,150 (GRCm38)	D559E	probably benign	Het
Phldb2	G	T	16: 45,825,188 (GRCm38)	D343E	probably damaging	Het
Phrf1	T	A	7: 141,260,540 (GRCm38)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,930,651 (GRCm38)		probably null	Het
Plekhf1	A	T	7: 38,222,170 (GRCm38)		probably null	Het
Rars1	T	C	11: 35,828,648 (GRCm38)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,682,808 (GRCm38)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,615,682 (GRCm38)		probably null	Het
Scaf1	A	G	7: 45,013,592 (GRCm38)		probably benign	Het
Serpinb11	A	T	1: 107,372,189 (GRCm38)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103 (GRCm38)	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175 (GRCm38)		probably null	Het
Slfn1	C	A	11: 83,121,176 (GRCm38)	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295 (GRCm38)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319 (GRCm38)	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674 (GRCm38)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm38)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632 (GRCm38)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,646,534 (GRCm38)		probably benign	Het
Ubqln5	T	G	7: 104,128,574 (GRCm38)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085 (GRCm38)	D22G	probably benign	Het
Vars1	A	G	17: 35,012,376 (GRCm38)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453 (GRCm38)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871 (GRCm38)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066 (GRCm38)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428 (GRCm38)		probably benign	Het
Zbtb2	A	T	10: 4,368,592 (GRCm38)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,239,988 (GRCm38)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,007,149 (GRCm38)		probably null	Het
Zfp629	G	A	7: 127,610,370 (GRCm38)	H756Y	probably damaging	Het
Zfp958	T	A	8: 4,629,072 (GRCm38)	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523 (GRCm38)	T396I	probably benign	Het

Other mutations in Zfp748

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02366:Zfp748	APN	13	67,545,427 (GRCm38)	splice site	probably benign
R0440:Zfp748	UTSW	13	67,553,025 (GRCm38)	splice site	probably null
R0790:Zfp748	UTSW	13	67,545,362 (GRCm38)	missense	probably benign	0.03
R1760:Zfp748	UTSW	13	67,545,421 (GRCm38)	critical splice acceptor site	probably null
R2520:Zfp748	UTSW	13	67,546,662 (GRCm38)	missense	possibly damaging	0.84
R3711:Zfp748	UTSW	13	67,540,796 (GRCm38)	missense	probably damaging	1.00
R4157:Zfp748	UTSW	13	67,542,106 (GRCm38)	missense	possibly damaging	0.80
R4288:Zfp748	UTSW	13	67,541,083 (GRCm38)	missense	probably damaging	1.00
R4289:Zfp748	UTSW	13	67,541,083 (GRCm38)	missense	probably damaging	1.00
R5091:Zfp748	UTSW	13	67,541,519 (GRCm38)	missense	probably damaging	1.00
R5441:Zfp748	UTSW	13	67,540,618 (GRCm38)	missense	probably damaging	1.00
R5686:Zfp748	UTSW	13	67,542,528 (GRCm38)	nonsense	probably null
R6210:Zfp748	UTSW	13	67,540,804 (GRCm38)	missense	possibly damaging	0.85
R6268:Zfp748	UTSW	13	67,542,586 (GRCm38)	missense	possibly damaging	0.77
R6639:Zfp748	UTSW	13	67,542,905 (GRCm38)	missense	probably damaging	1.00
R6810:Zfp748	UTSW	13	67,541,725 (GRCm38)	missense	probably damaging	1.00
R7148:Zfp748	UTSW	13	67,542,239 (GRCm38)	missense	possibly damaging	0.96
R7464:Zfp748	UTSW	13	67,541,972 (GRCm38)	missense	probably damaging	1.00
R7593:Zfp748	UTSW	13	67,542,519 (GRCm38)	missense	probably benign	0.20
R7644:Zfp748	UTSW	13	67,541,449 (GRCm38)	missense	probably damaging	0.99
R7799:Zfp748	UTSW	13	67,541,489 (GRCm38)	missense	probably benign	0.02
R8872:Zfp748	UTSW	13	67,541,795 (GRCm38)	missense	probably damaging	1.00
R9140:Zfp748	UTSW	13	67,540,954 (GRCm38)	missense	probably damaging	1.00
R9402:Zfp748	UTSW	13	67,545,392 (GRCm38)	missense	probably benign	0.33
R9649:Zfp748	UTSW	13	67,542,528 (GRCm38)	nonsense	probably null
R9687:Zfp748	UTSW	13	67,542,352 (GRCm38)	missense	probably benign	0.00
R9749:Zfp748	UTSW	13	67,542,454 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCGAGTACAAAAGTCCTTGCCA -3'
(R):5'- TTTTGTACTCGCTCAGGACGT -3'

Sequencing Primer
(F):5'- CCCAGTATGACCTAATTTGTGCTGAG -3'
(R):5'- TACTCGCTCAGGACGTTCCAG -3'

Posted On

2017-02-28