Mutagenetix > Incidental Mutation

Incidental Mutation 'R1692:Zfp747l1'

191861

Institutional Source

Beutler Lab

Gene Symbol

Zfp747l1

Ensembl Gene

ENSMUSG00000030823

Gene Name

zinc finger protein 747 like 1

Synonyms

9130019O22Rik

MMRRC Submission

039725-MU

Accession Numbers

Essential gene?

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

Stock #

R1692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126981432-126986338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126983652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 483 (H483Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038195 (fasta)

Gene Model

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

AlphaFold

G3X941

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049052
AA Change: H483Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: H483Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,489,673 (GRCm39)	*582R	probably null	Het
Agfg2	A	G	5: 137,662,633 (GRCm39)	Y145H	probably damaging	Het
Aldh1a1	C	T	19: 20,608,182 (GRCm39)	P335S	probably damaging	Het
Amotl1	T	C	9: 14,463,018 (GRCm39)	R732G	possibly damaging	Het
Ankef1	A	T	2: 136,392,346 (GRCm39)	I512F	probably benign	Het
Atg9a	A	T	1: 75,166,999 (GRCm39)	D17E	probably benign	Het
Atpsckmt	T	C	15: 31,602,297 (GRCm39)		probably null	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Ccnq	T	C	11: 78,642,157 (GRCm39)	E111G	probably benign	Het
Cd79a	T	A	7: 24,600,881 (GRCm39)	M192K	probably damaging	Het
Clcn1	T	G	6: 42,290,032 (GRCm39)	F822L	possibly damaging	Het
Dnajb12	A	G	10: 59,732,199 (GRCm39)	Y346C	probably damaging	Het
Erbb3	A	G	10: 128,407,594 (GRCm39)	I918T	probably benign	Het
Fbxw20	G	T	9: 109,050,777 (GRCm39)	T377K	possibly damaging	Het
Fry	A	G	5: 150,293,692 (GRCm39)	I462V	probably damaging	Het
Gmip	A	G	8: 70,266,553 (GRCm39)	N251S	probably benign	Het
Gpx1	A	G	9: 108,216,674 (GRCm39)	T55A	possibly damaging	Het
Hmcn2	T	C	2: 31,340,856 (GRCm39)	V4443A	possibly damaging	Het
Kdm4d	A	T	9: 14,375,807 (GRCm39)	I17K	probably benign	Het
Lamc3	A	G	2: 31,811,793 (GRCm39)	S927G	probably null	Het
Map7d1	G	A	4: 126,136,101 (GRCm39)	P36S	probably damaging	Het
Mfsd13a	C	A	19: 46,360,515 (GRCm39)	H356N	probably benign	Het
Mtap	C	T	4: 89,095,151 (GRCm39)	R268C	probably benign	Het
Myo1a	C	T	10: 127,555,203 (GRCm39)		probably null	Het
Myom3	T	C	4: 135,502,862 (GRCm39)	L313P	probably benign	Het
Nrxn2	T	A	19: 6,569,298 (GRCm39)	V1391E	probably damaging	Het
Otoa	A	C	7: 120,690,774 (GRCm39)	Q3P	probably damaging	Het
Phldb1	T	C	9: 44,626,717 (GRCm39)	E576G	probably damaging	Het
Pigw	A	C	11: 84,767,892 (GRCm39)	L479R	probably damaging	Het
Pip5k1a	A	G	3: 94,971,041 (GRCm39)	I507T	probably benign	Het
Ppp4r3b	T	A	11: 29,138,123 (GRCm39)	I157N	probably benign	Het
Rrm2b	G	A	15: 37,927,566 (GRCm39)	R115*	probably null	Het
Sall1	C	T	8: 89,755,028 (GRCm39)	S1317N	probably benign	Het
Serpinb6b	T	G	13: 33,158,978 (GRCm39)	F179V	probably damaging	Het
Slc4a8	T	A	15: 100,698,454 (GRCm39)	F648I	probably damaging	Het
Slc5a7	T	C	17: 54,588,754 (GRCm39)	T298A	probably damaging	Het
Slit3	T	C	11: 35,550,171 (GRCm39)	L830P	probably damaging	Het
Smarcc1	T	A	9: 110,003,072 (GRCm39)	N387K	possibly damaging	Het
Tanc2	C	T	11: 105,748,326 (GRCm39)	T486I	probably benign	Het
Tdp1	C	T	12: 99,921,260 (GRCm39)	P599S	probably damaging	Het
Tmem33	A	G	5: 67,425,897 (GRCm39)	D38G	probably null	Het
Uvrag	C	T	7: 98,653,870 (GRCm39)	R247Q	probably benign	Het
Vars1	T	C	17: 35,232,701 (GRCm39)	V875A	probably damaging	Het
Vcl	A	G	14: 21,074,250 (GRCm39)	E879G	probably damaging	Het
Vmn1r231	C	T	17: 21,110,871 (GRCm39)	V15I	probably benign	Het
Zfp609	T	C	9: 65,702,593 (GRCm39)	T20A	probably damaging	Het
Zfp959	T	A	17: 56,205,299 (GRCm39)	H445Q	probably damaging	Het
Zmiz2	T	A	11: 6,350,795 (GRCm39)	V515E	probably damaging	Het
Zmym5	G	A	14: 57,041,650 (GRCm39)	T151M	probably damaging	Het
Zxdc	C	T	6: 90,355,933 (GRCm39)	Q481*	probably null	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
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
R9204:Zfp747l1	UTSW	7	126,984,332 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTCTGGGTAATGCTAGAAGCCCAC -3'
(R):5'- CACTGGGGAGAAGCCTTACTGTTG -3'

Sequencing Primer
(F):5'- TGCTAGAAGCCCACAGGTG -3'
(R):5'- TGCTTCAGCCAGAGATCTGC -3'

Posted On

2014-05-14