Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Zfp748'

711307

Institutional Source

Beutler Lab

Gene Symbol

Zfp748

Ensembl Gene

ENSMUSG00000095432

Gene Name

zinc finger protein 748

Synonyms

KRAB-O, mszf54, Zfp208, 2610014M12Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67686758-67701257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67693511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 54 (V54A)

Ref Sequence

ENSEMBL: ENSMUSP00000137928 (fasta)

Gene Model

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

AlphaFold

Q7TPL6

Predicted Effect

probably benign
Transcript: ENSMUST00000181892
AA Change: V54A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: V54A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,049,154 (GRCm39)	Q218L	probably benign	Het
Atg2b	A	G	12: 105,614,682 (GRCm39)	F1083S	probably damaging	Het
Bche	T	C	3: 73,608,656 (GRCm39)	N257D	probably benign	Het
Cfap221	T	A	1: 119,860,551 (GRCm39)	M692L	probably benign	Het
Cfap46	G	T	7: 139,215,865 (GRCm39)	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,710,183 (GRCm39)		probably null	Het
Daam1	A	G	12: 72,006,604 (GRCm39)	T674A	probably benign	Het
Elp2	A	T	18: 24,759,220 (GRCm39)	I526L	probably benign	Het
Exoc4	T	A	6: 33,453,078 (GRCm39)	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,589 (GRCm39)	S226L	probably damaging	Het
Fbxl9	T	A	8: 106,049,988 (GRCm39)	Y12F	probably benign	Het
Fry	G	A	5: 150,357,161 (GRCm39)	E1903K	possibly damaging	Het
Fry	G	A	5: 150,360,318 (GRCm39)	R1988K	probably damaging	Het
Gas1	A	T	13: 60,324,016 (GRCm39)	M206K	probably damaging	Het
Gbp10	T	A	5: 105,381,863 (GRCm39)	T96S	possibly damaging	Het
Gm14569	G	A	X: 35,694,549 (GRCm39)	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,216,418 (GRCm39)	T105A	probably benign	Het
Hoxc13	C	A	15: 102,830,051 (GRCm39)	C143*	probably null	Het
Htt	T	C	5: 35,006,324 (GRCm39)	I1411T	probably damaging	Het
Inava	T	G	1: 136,155,348 (GRCm39)	S86R	probably benign	Het
Jmy	C	T	13: 93,635,678 (GRCm39)	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,609,482 (GRCm39)	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,872,210 (GRCm39)	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,013,704 (GRCm39)	T526K		Het
Luzp1	T	A	4: 136,270,493 (GRCm39)	H905Q	probably damaging	Het
Lyst	T	A	13: 13,812,463 (GRCm39)	H958Q	probably benign	Het
Magi1	T	C	6: 94,260,278 (GRCm39)	N9S	probably benign	Het
Mmadhc	A	T	2: 50,171,119 (GRCm39)	V231E	probably benign	Het
Muc5b	T	A	7: 141,399,151 (GRCm39)	M364K	unknown	Het
Nae1	A	G	8: 105,254,817 (GRCm39)		probably null	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nlgn2	A	G	11: 69,718,933 (GRCm39)	F252S		Het
Nlrp9a	A	T	7: 26,270,030 (GRCm39)	N874I	possibly damaging	Het
Nodal	T	C	10: 61,259,379 (GRCm39)	I272T	probably damaging	Het
Or4a15	C	A	2: 89,193,123 (GRCm39)	G217*	probably null	Het
Or4c12	A	T	2: 89,774,284 (GRCm39)	Y58*	probably null	Het
Or51a24	G	A	7: 103,733,610 (GRCm39)	R226*	probably null	Het
Or52ab4	T	C	7: 102,988,196 (GRCm39)	S312P	probably benign	Het
Orm1	C	A	4: 63,263,369 (GRCm39)	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,684,646 (GRCm39)	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,632,532 (GRCm39)	Q776*	probably null	Het
Phf14	A	G	6: 11,933,779 (GRCm39)	R214G	possibly damaging	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Pigz	A	G	16: 31,764,187 (GRCm39)	E415G	probably damaging	Het
Pramel5	T	C	4: 143,998,026 (GRCm39)	T406A	probably benign	Het
Prtg	A	G	9: 72,819,253 (GRCm39)	E1082G	probably benign	Het
Rtp3	A	G	9: 110,815,031 (GRCm39)	C445R	unknown	Het
Scn3b	A	T	9: 40,193,852 (GRCm39)	E193V	probably damaging	Het
Scn7a	A	T	2: 66,510,456 (GRCm39)	N1315K	probably damaging	Het
Snx14	C	T	9: 88,289,490 (GRCm39)	G254D	probably damaging	Het
Srbd1	T	C	17: 86,406,705 (GRCm39)	D560G	probably benign	Het
Srp72	T	A	5: 77,124,329 (GRCm39)	L65*	probably null	Het
Steap1	T	A	5: 5,790,664 (GRCm39)	I95F		Het
Taf3	A	G	2: 9,955,923 (GRCm39)		probably null	Het
Taok2	T	C	7: 126,469,400 (GRCm39)	N1143D		Het
Tas2r114	C	T	6: 131,666,894 (GRCm39)	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 137,811,551 (GRCm39)	K548E	probably damaging	Het
Tcp1	T	A	17: 13,141,505 (GRCm39)	L328Q	probably benign	Het
Tns2	A	G	15: 102,021,623 (GRCm39)	H1096R	probably damaging	Het
Trps1	A	T	15: 50,709,652 (GRCm39)	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 88,987,064 (GRCm39)	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,128,684 (GRCm39)	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	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
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
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'- GCTTAGAGACTTAAGGCATCATAAGAG -3'
(R):5'- CTGGGGAGATTGTTGATGCAAC -3'

Sequencing Primer
(F):5'- GGCATCATAAGAGAGATGTCTTCTG -3'
(R):5'- CAATAGCAGAGTCCTGGA -3'

Posted On

2022-05-16