Mutagenetix > Incidental Mutation

Incidental Mutation 'R9204:Zfp747l1'

698381

Institutional Source

Beutler Lab

Gene Symbol

Zfp747l1

Ensembl Gene

ENSMUSG00000030823

Gene Name

zinc finger protein 747 like 1

Synonyms

9130019O22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126981432-126986338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126984332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 257 (I257L)

Ref Sequence

ENSEMBL: ENSMUSP00000038195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049052] [ENSMUST00000164345] [ENSMUST00000165495]

AlphaFold

G3X941

Predicted Effect

unknown
Transcript: ENSMUST00000049052
AA Change: I257L

SMART Domains

Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: I257L

Domain	Start	End	E-Value	Type
KRAB	22	82	5.44e-25	SMART
low complexity region	102	115	N/A	INTRINSIC
ZnF_C2H2	152	174	6.88e-4	SMART
ZnF_C2H2	180	202	1.47e-3	SMART
ZnF_C2H2	208	230	5.29e-5	SMART
ZnF_C2H2	236	258	4.87e-4	SMART
ZnF_C2H2	264	286	3.69e-4	SMART
ZnF_C2H2	292	314	1.47e-3	SMART
ZnF_C2H2	320	342	5.21e-4	SMART
ZnF_C2H2	348	370	1.45e-2	SMART
ZnF_C2H2	376	398	2.12e-4	SMART
ZnF_C2H2	404	427	1.45e-2	SMART
ZnF_C2H2	433	455	3.69e-4	SMART
ZnF_C2H2	461	483	6.67e-2	SMART
ZnF_C2H2	489	511	1.67e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164345

SMART Domains

Protein: ENSMUSP00000131610
Gene: ENSMUSG00000030823

Domain	Start	End	E-Value	Type
KRAB	22	67	1.65e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165495

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580

Domain	Start	End	E-Value	Type
KRAB	22	82	4.09e-29	SMART
ZnF_C2H2	168	190	2.2e-2	SMART
ZnF_C2H2	196	218	4.79e-3	SMART
ZnF_C2H2	224	246	4.3e-5	SMART
ZnF_C2H2	252	274	7.9e-4	SMART
ZnF_C2H2	280	302	9.58e-3	SMART
ZnF_C2H2	308	331	2.36e-2	SMART
ZnF_C2H2	337	359	2.57e-3	SMART
ZnF_C2H2	365	387	1.69e-3	SMART
ZnF_C2H2	393	415	2.2e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,996,566 (GRCm39)	V389A	possibly damaging	Het
Adgrl1	T	C	8: 84,660,519 (GRCm39)	F792S	probably benign	Het
Angptl2	A	T	2: 33,118,342 (GRCm39)	I39F	probably benign	Het
Aprt	A	G	8: 123,303,355 (GRCm39)	I29T	probably damaging	Het
Arhgap21	A	T	2: 20,885,816 (GRCm39)	S464T	probably damaging	Het
Atic	T	C	1: 71,603,636 (GRCm39)	Y151H	probably damaging	Het
BB014433	T	C	8: 15,092,623 (GRCm39)	T77A	unknown	Het
Boc	C	A	16: 44,308,077 (GRCm39)	C926F		Het
Brd10	A	G	19: 29,696,938 (GRCm39)	S852P	possibly damaging	Het
Cabin1	C	T	10: 75,530,550 (GRCm39)	R1544Q	probably benign	Het
Ccdc33	A	G	9: 57,938,388 (GRCm39)	V861A	probably benign	Het
Ccdc88c	T	C	12: 100,904,322 (GRCm39)	T230A	unknown	Het
Cdc42bpa	T	A	1: 179,939,460 (GRCm39)		probably null	Het
Chrnb2	T	C	3: 89,668,128 (GRCm39)	M396V	probably benign	Het
Chst2	A	G	9: 95,287,155 (GRCm39)	V397A	probably damaging	Het
Cit	T	A	5: 116,126,498 (GRCm39)	N1643K	probably damaging	Het
Ckb	T	A	12: 111,637,869 (GRCm39)	D113V	probably benign	Het
Cyp2c68	A	T	19: 39,727,571 (GRCm39)	M136K	probably damaging	Het
Epas1	G	T	17: 87,116,873 (GRCm39)	R181L	probably damaging	Het
Flnc	A	C	6: 29,452,353 (GRCm39)	I1726L	possibly damaging	Het
Fras1	G	A	5: 96,883,022 (GRCm39)	R2518H	probably damaging	Het
Gid4	T	C	11: 60,308,654 (GRCm39)	V58A	probably benign	Het
Hmcn1	T	A	1: 150,610,262 (GRCm39)	N1469I	probably benign	Het
Hmcn2	A	G	2: 31,278,377 (GRCm39)	E1693G	probably damaging	Het
Irx4	C	G	13: 73,416,649 (GRCm39)	C348W	probably damaging	Het
Lrig2	A	G	3: 104,387,438 (GRCm39)	S410P	possibly damaging	Het
Lsm11	A	G	11: 45,824,789 (GRCm39)	V246A	probably benign	Het
Ltbp1	G	T	17: 75,670,425 (GRCm39)	V1489F	probably damaging	Het
Mc2r	T	C	18: 68,540,667 (GRCm39)	T209A	probably benign	Het
Mms22l	T	C	4: 24,581,153 (GRCm39)	L821P	probably damaging	Het
Mtus2	A	T	5: 148,238,293 (GRCm39)	E1206V	probably damaging	Het
Muc5b	T	A	7: 141,410,129 (GRCm39)	H1234Q	unknown	Het
Naip5	A	T	13: 100,359,008 (GRCm39)	F743I	probably damaging	Het
Nphp3	G	A	9: 103,919,305 (GRCm39)	V1318I	probably benign	Het
Or4c10b	T	G	2: 89,711,482 (GRCm39)	L104W	probably damaging	Het
Or52a24	A	G	7: 103,382,056 (GRCm39)	K308E	possibly damaging	Het
Or5p60	A	T	7: 107,723,935 (GRCm39)	N178K	possibly damaging	Het
Or7g26	T	C	9: 19,229,995 (GRCm39)	L61P	probably damaging	Het
Or8b4	C	A	9: 37,830,670 (GRCm39)	T239K	probably damaging	Het
Or9k2b	G	C	10: 130,016,566 (GRCm39)	P61R	probably damaging	Het
Paqr5	G	A	9: 61,868,826 (GRCm39)	R246C	probably benign	Het
Pdgfb	T	C	15: 79,885,956 (GRCm39)	Q128R	probably damaging	Het
Prr3	T	A	17: 36,285,619 (GRCm39)	I88F	possibly damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
R3hcc1l	G	A	19: 42,552,301 (GRCm39)	D433N	probably benign	Het
Scnn1b	A	T	7: 121,498,522 (GRCm39)	T21S	probably benign	Het
Smcr8	A	G	11: 60,668,857 (GRCm39)	I2V	probably damaging	Het
Stk33	T	C	7: 108,940,686 (GRCm39)	D8G	probably benign	Het
Tbc1d22a	T	C	15: 86,098,803 (GRCm39)	F10L	probably benign	Het
Tmem126a	T	A	7: 90,102,026 (GRCm39)	I58F	possibly damaging	Het
Ttf2	T	C	3: 100,869,880 (GRCm39)	K398E	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp53	G	T	3: 122,741,068 (GRCm39)	N727K	probably benign	Het
Vmn2r25	T	G	6: 123,830,092 (GRCm39)	I20L	probably benign	Het

Other mutations in Zfp747l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Zfp747l1	APN	7	126,985,716 (GRCm39)	unclassified	probably benign
IGL03102:Zfp747l1	APN	7	126,983,951 (GRCm39)	missense	probably benign	0.01
IGL03264:Zfp747l1	APN	7	126,984,811 (GRCm39)	unclassified	probably benign
R1653:Zfp747l1	UTSW	7	126,983,652 (GRCm39)	missense	possibly damaging	0.71
R1692:Zfp747l1	UTSW	7	126,983,652 (GRCm39)	missense	possibly damaging	0.71
R2042:Zfp747l1	UTSW	7	126,984,641 (GRCm39)	missense	possibly damaging	0.93
R2132:Zfp747l1	UTSW	7	126,986,107 (GRCm39)	missense	probably benign
R3768:Zfp747l1	UTSW	7	126,984,035 (GRCm39)	unclassified	probably benign
R3769:Zfp747l1	UTSW	7	126,984,035 (GRCm39)	unclassified	probably benign
R3770:Zfp747l1	UTSW	7	126,984,035 (GRCm39)	unclassified	probably benign
R4459:Zfp747l1	UTSW	7	126,983,917 (GRCm39)	missense	probably damaging	0.98
R4461:Zfp747l1	UTSW	7	126,983,917 (GRCm39)	missense	probably damaging	0.98
R4839:Zfp747l1	UTSW	7	126,984,179 (GRCm39)	missense	probably benign	0.32
R4903:Zfp747l1	UTSW	7	126,984,578 (GRCm39)	missense	probably benign	0.02
R5231:Zfp747l1	UTSW	7	126,984,586 (GRCm39)	missense	probably damaging	0.98
R5324:Zfp747l1	UTSW	7	126,984,079 (GRCm39)	unclassified	probably benign
R5735:Zfp747l1	UTSW	7	126,984,579 (GRCm39)	missense	possibly damaging	0.60
R5808:Zfp747l1	UTSW	7	126,984,085 (GRCm39)	unclassified	probably benign
R6429:Zfp747l1	UTSW	7	126,984,214 (GRCm39)	unclassified	probably benign
R6571:Zfp747l1	UTSW	7	126,984,310 (GRCm39)	unclassified	probably benign
R6655:Zfp747l1	UTSW	7	126,983,512 (GRCm39)	missense	possibly damaging	0.96
R6806:Zfp747l1	UTSW	7	126,985,766 (GRCm39)	unclassified	probably benign
R6962:Zfp747l1	UTSW	7	126,983,487 (GRCm39)	missense	possibly damaging	0.70
R7091:Zfp747l1	UTSW	7	126,983,534 (GRCm39)	missense	possibly damaging	0.70
R7204:Zfp747l1	UTSW	7	126,983,518 (GRCm39)	missense	possibly damaging	0.92
R7218:Zfp747l1	UTSW	7	126,983,852 (GRCm39)	missense	probably benign	0.32
R7570:Zfp747l1	UTSW	7	126,984,455 (GRCm39)	missense	probably benign	0.00
R7604:Zfp747l1	UTSW	7	126,985,707 (GRCm39)	missense	unknown
R7661:Zfp747l1	UTSW	7	126,984,135 (GRCm39)	nonsense	probably null
R7893:Zfp747l1	UTSW	7	126,985,716 (GRCm39)	unclassified	probably benign
R8323:Zfp747l1	UTSW	7	126,983,621 (GRCm39)	missense	possibly damaging	0.71
R9172:Zfp747l1	UTSW	7	126,984,626 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGTGATCCACCAATGTGCACC -3'
(R):5'- CGGTATTCTTCCCTGAGCAC -3'

Sequencing Primer
(F):5'- CAGTCAGGACACTGGTGTG -3'
(R):5'- TTCCCTGAGCACTCACCGAG -3'

Posted On

2022-02-07