Mutagenetix > Incidental Mutation

Incidental Mutation 'R1657:Zfp746'

186457

Institutional Source

Beutler Lab

Gene Symbol

Zfp746

Ensembl Gene

ENSMUSG00000057691

Gene Name

zinc finger protein 746

Synonyms

2810407L07Rik

MMRRC Submission

039693-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48039329-48063527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48059108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 167 (V167A)

Ref Sequence

ENSEMBL: ENSMUSP00000072868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073124] [ENSMUST00000203609]

AlphaFold

Q3U133

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073124
AA Change: V167A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072868
Gene: ENSMUSG00000057691
AA Change: V167A

Domain	Start	End	E-Value	Type
Pfam:DUF3669	11	81	3.4e-12	PFAM
KRAB	107	156	1.37e-12	SMART
low complexity region	168	183	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
ZnF_C2H2	454	474	3.65e1	SMART
low complexity region	481	511	N/A	INTRINSIC
ZnF_C2H2	517	539	1.92e-2	SMART
ZnF_C2H2	545	567	1.82e-3	SMART
ZnF_C2H2	573	595	1.72e-4	SMART
low complexity region	601	623	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203609
AA Change: V167A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145506
Gene: ENSMUSG00000057691
AA Change: V167A

Domain	Start	End	E-Value	Type
Pfam:DUF3669	11	81	4.6e-9	PFAM
KRAB	107	156	5.7e-15	SMART
low complexity region	168	183	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
ZnF_C2H2	453	473	1.6e-1	SMART
low complexity region	480	510	N/A	INTRINSIC
ZnF_C2H2	516	538	8e-5	SMART
ZnF_C2H2	544	566	7.8e-6	SMART
ZnF_C2H2	572	594	7.3e-7	SMART
low complexity region	600	622	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204771

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,154,910 (GRCm39)	D988E	probably benign	Het
Als2	A	G	1: 59,219,760 (GRCm39)	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,375,029 (GRCm39)	V391A	probably damaging	Het
Armh4	G	C	14: 50,011,017 (GRCm39)	T230S	probably damaging	Het
Caprin1	A	T	2: 103,599,851 (GRCm39)	V608E	probably damaging	Het
Celsr3	T	A	9: 108,720,151 (GRCm39)	C2512*	probably null	Het
Cfl1	A	T	19: 5,543,583 (GRCm39)	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,633,226 (GRCm39)	V42I	probably damaging	Het
Chd2	A	G	7: 73,130,178 (GRCm39)	Y826H	probably damaging	Het
Col9a2	C	A	4: 120,898,171 (GRCm39)	P28T	unknown	Het
Cyp3a44	G	A	5: 145,716,553 (GRCm39)	P346S	probably damaging	Het
Dact2	A	G	17: 14,418,252 (GRCm39)	V151A	probably benign	Het
Dhx29	T	C	13: 113,089,377 (GRCm39)	I716T	probably damaging	Het
Entrep1	C	A	19: 23,952,999 (GRCm39)	C437F	probably damaging	Het
Esam	T	C	9: 37,448,917 (GRCm39)	S342P	probably damaging	Het
Fer1l4	A	G	2: 155,877,518 (GRCm39)	V1053A	possibly damaging	Het
Grk3	A	G	5: 113,114,848 (GRCm39)	F124S	probably damaging	Het
H2-DMa	G	A	17: 34,356,373 (GRCm39)		probably null	Het
Hsd3b5	T	A	3: 98,527,036 (GRCm39)	I137F	possibly damaging	Het
Itgav	A	T	2: 83,632,123 (GRCm39)	I902F	probably benign	Het
Itsn1	G	T	16: 91,706,111 (GRCm39)	C179F	probably damaging	Het
Kcnh8	G	A	17: 53,146,153 (GRCm39)	R347H	probably damaging	Het
Kif9	T	C	9: 110,319,034 (GRCm39)	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,749,453 (GRCm39)	Q324*	probably null	Het
Lcn9	G	A	2: 25,714,722 (GRCm39)	E154K	probably benign	Het
Mfge8	A	T	7: 78,791,521 (GRCm39)	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,960,525 (GRCm39)	R753*	probably null	Het
Mtif2	G	A	11: 29,490,721 (GRCm39)	R475Q	probably benign	Het
Nln	C	T	13: 104,173,455 (GRCm39)	V584I	possibly damaging	Het
Nr2e3	T	C	9: 59,856,050 (GRCm39)	E129G	probably benign	Het
Ocstamp	T	C	2: 165,239,436 (GRCm39)	D250G	probably damaging	Het
Or1a1	A	T	11: 74,086,722 (GRCm39)	H131L	probably damaging	Het
Or52n4b	T	C	7: 108,144,584 (GRCm39)	I284T	possibly damaging	Het
Or8k27	A	C	2: 86,275,562 (GRCm39)	L255V	probably damaging	Het
Pld1	A	T	3: 28,125,336 (GRCm39)	I417L	probably benign	Het
Polr1a	A	T	6: 71,918,519 (GRCm39)	K692N	probably damaging	Het
Qsox2	A	T	2: 26,110,759 (GRCm39)	Y152*	probably null	Het
Rpap1	T	C	2: 119,614,259 (GRCm39)	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,320,085 (GRCm39)	T246A	probably damaging	Het
Scn5a	T	C	9: 119,391,446 (GRCm39)	D82G	probably damaging	Het
Sema3d	A	G	5: 12,634,941 (GRCm39)	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 34,064,209 (GRCm39)	N282S	probably benign	Het
Snap47	A	T	11: 59,319,596 (GRCm39)	S181T	probably benign	Het
Snx9	A	C	17: 5,968,711 (GRCm39)	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Terb1	A	T	8: 105,215,123 (GRCm39)	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,325,292 (GRCm39)	A153V	probably damaging	Het
Trappc2b	T	C	11: 51,576,505 (GRCm39)	Q131R	probably benign	Het
Ttn	T	C	2: 76,573,148 (GRCm39)	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,983,011 (GRCm39)	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,223,070 (GRCm39)	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,771,877 (GRCm39)		probably benign	Het
Zfp184	C	T	13: 22,143,443 (GRCm39)	T383M	probably damaging	Het
Zfp455	T	C	13: 67,346,703 (GRCm39)	F38S	possibly damaging	Het
Zfp985	T	A	4: 147,668,567 (GRCm39)	N478K	probably benign	Het

Other mutations in Zfp746

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Zfp746	APN	6	48,059,092 (GRCm39)	missense	probably damaging	0.99
R0020:Zfp746	UTSW	6	48,041,641 (GRCm39)	missense	probably benign	0.05
R0020:Zfp746	UTSW	6	48,041,641 (GRCm39)	missense	probably benign	0.05
R0734:Zfp746	UTSW	6	48,041,833 (GRCm39)	missense	probably damaging	0.97
R1109:Zfp746	UTSW	6	48,041,856 (GRCm39)	missense	possibly damaging	0.94
R1656:Zfp746	UTSW	6	48,041,411 (GRCm39)	missense	probably damaging	0.99
R2474:Zfp746	UTSW	6	48,041,703 (GRCm39)	missense	probably damaging	1.00
R4748:Zfp746	UTSW	6	48,041,490 (GRCm39)	missense	probably benign	0.05
R5168:Zfp746	UTSW	6	48,041,329 (GRCm39)	missense	possibly damaging	0.88
R5386:Zfp746	UTSW	6	48,041,110 (GRCm39)	missense	possibly damaging	0.94
R5446:Zfp746	UTSW	6	48,041,107 (GRCm39)	missense	probably damaging	0.97
R5560:Zfp746	UTSW	6	48,059,108 (GRCm39)	missense	possibly damaging	0.94
R7251:Zfp746	UTSW	6	48,041,811 (GRCm39)	missense	probably damaging	1.00
R7524:Zfp746	UTSW	6	48,041,823 (GRCm39)	missense	possibly damaging	0.95
R9502:Zfp746	UTSW	6	48,041,397 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGATGACTCCTTGCACAGTTCG -3'
(R):5'- TACAAATGCCTGCCCCAGCTTC -3'

Sequencing Primer
(F):5'- CTCCTTGCACAGTTCGGAATAAG -3'
(R):5'- CCCCAGCTTCTGATGAGAATG -3'

Posted On

2014-05-09