Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Zfp748'

443382

Institutional Source

Beutler Lab

Gene Symbol

Zfp748

Ensembl Gene

ENSMUSG00000095432

Gene Name

zinc finger protein 748

Synonyms

KRAB-O, mszf54, Zfp208, 2610014M12Rik

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67686758-67701257 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 67690647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 204 (C204*)

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

probably null
Transcript: ENSMUST00000181892
AA Change: C204*

SMART Domains

Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: C204*

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	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
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
R6810:Zfp748	UTSW	13	67,689,844 (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'- GCGCTAAAGGCCTTAACATAG -3'
(R):5'- GCTCTTACTCAGTAATTCCTGAACAC -3'

Sequencing Primer
(F):5'- GCGCTAAAGGCCTTAACATAGTCTTC -3'
(R):5'- GGTAAAGTCATTTGTACTTGCTCAG -3'

Posted On

2016-11-09