Mutagenetix > Incidental Mutation

Incidental Mutation 'R6387:Zfp710'

514654

Institutional Source

Beutler Lab

Gene Symbol

Zfp710

Ensembl Gene

ENSMUSG00000048897

Gene Name

zinc finger protein 710

Synonyms

5430400N05Rik

MMRRC Submission

044536-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R6387 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79674581-79742498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79735775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 514 (I514T)

Ref Sequence

ENSEMBL: ENSMUSP00000146148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049680] [ENSMUST00000164056] [ENSMUST00000166250] [ENSMUST00000206039] [ENSMUST00000206104]

AlphaFold

Q3U288

Predicted Effect

probably damaging
Transcript: ENSMUST00000049680
AA Change: I514T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050577
Gene: ENSMUSG00000048897
AA Change: I514T

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC
low complexity region	106	127	N/A	INTRINSIC
low complexity region	169	181	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
ZnF_C2H2	297	319	2.71e-2	SMART
ZnF_C2H2	325	347	1.92e-2	SMART
ZnF_C2H2	353	375	2.71e-2	SMART
ZnF_C2H2	381	403	1.18e-2	SMART
ZnF_C2H2	409	431	1.67e-2	SMART
ZnF_C2H2	437	459	4.87e-4	SMART
ZnF_C2H2	465	487	3.83e-2	SMART
ZnF_C2H2	493	515	2.12e-4	SMART
ZnF_C2H2	521	543	3.63e-3	SMART
ZnF_C2H2	549	571	1.58e-3	SMART
ZnF_C2H2	577	600	3.69e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164056
AA Change: I514T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132361
Gene: ENSMUSG00000048897
AA Change: I514T

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC
low complexity region	106	127	N/A	INTRINSIC
low complexity region	169	181	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
ZnF_C2H2	297	319	2.71e-2	SMART
ZnF_C2H2	325	347	1.92e-2	SMART
ZnF_C2H2	353	375	2.71e-2	SMART
ZnF_C2H2	381	403	1.18e-2	SMART
ZnF_C2H2	409	431	1.67e-2	SMART
ZnF_C2H2	437	459	4.87e-4	SMART
ZnF_C2H2	465	487	3.83e-2	SMART
ZnF_C2H2	493	515	2.12e-4	SMART
ZnF_C2H2	521	543	3.63e-3	SMART
ZnF_C2H2	549	571	1.58e-3	SMART
ZnF_C2H2	577	600	3.69e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166250
AA Change: I514T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129357
Gene: ENSMUSG00000048897
AA Change: I514T

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC
low complexity region	106	127	N/A	INTRINSIC
low complexity region	169	181	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
ZnF_C2H2	297	319	2.71e-2	SMART
ZnF_C2H2	325	347	1.92e-2	SMART
ZnF_C2H2	353	375	2.71e-2	SMART
ZnF_C2H2	381	403	1.18e-2	SMART
ZnF_C2H2	409	431	1.67e-2	SMART
ZnF_C2H2	437	459	4.87e-4	SMART
ZnF_C2H2	465	487	3.83e-2	SMART
ZnF_C2H2	493	515	2.12e-4	SMART
ZnF_C2H2	521	543	3.63e-3	SMART
ZnF_C2H2	549	571	1.58e-3	SMART
ZnF_C2H2	577	600	3.69e-4	SMART
low complexity region	614	633	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000206039
AA Change: I514T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206423

Meta Mutation Damage Score

0.2307

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,881 (GRCm39)	K326E	possibly damaging	Het
Acot1	A	G	12: 84,056,627 (GRCm39)	D115G	probably benign	Het
Adm	T	C	7: 110,227,502 (GRCm39)	I6T	possibly damaging	Het
Ahi1	A	G	10: 20,844,942 (GRCm39)	Y349C	probably damaging	Het
Aldh1a1	A	G	19: 20,595,323 (GRCm39)	E84G	probably damaging	Het
Ankrd31	A	G	13: 96,967,081 (GRCm39)	D520G	probably damaging	Het
Ano4	A	T	10: 88,807,267 (GRCm39)	Y736*	probably null	Het
Atp6v1a	A	G	16: 43,907,806 (GRCm39)	F612S	possibly damaging	Het
Bltp3b	C	T	10: 89,638,919 (GRCm39)	Q442*	probably null	Het
Calcb	G	A	7: 114,319,025 (GRCm39)	V17I	possibly damaging	Het
Cfap70	C	T	14: 20,498,643 (GRCm39)	V15M	probably damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Csgalnact1	C	T	8: 68,811,365 (GRCm39)	G435D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eprs1	T	A	1: 185,119,281 (GRCm39)	M487K	possibly damaging	Het
Fat4	A	G	3: 39,037,934 (GRCm39)	E3862G	probably damaging	Het
Gdf10	T	A	14: 33,645,961 (GRCm39)	S37T	probably benign	Het
Hhatl	T	A	9: 121,619,467 (GRCm39)	H39L	probably benign	Het
Icam4	A	C	9: 20,941,505 (GRCm39)	S215R	possibly damaging	Het
Ighv1-18	T	C	12: 114,646,280 (GRCm39)	E108G	probably damaging	Het
Iqcd	T	C	5: 120,744,920 (GRCm39)	I416T	probably benign	Het
Marf1	T	A	16: 13,959,504 (GRCm39)	*577L	probably null	Het
Mark2	A	G	19: 7,263,267 (GRCm39)	F167L	probably damaging	Het
Mpdz	T	C	4: 81,299,946 (GRCm39)	T351A	possibly damaging	Het
Mrps27	A	G	13: 99,536,825 (GRCm39)	I113V	possibly damaging	Het
Numbl	C	T	7: 26,976,115 (GRCm39)	T265I	probably damaging	Het
Obsl1	C	T	1: 75,468,006 (GRCm39)	A1296T	probably benign	Het
Or10g9	A	G	9: 39,912,148 (GRCm39)	I125T	probably damaging	Het
Pcdhb21	A	G	18: 37,648,385 (GRCm39)	I505V	probably benign	Het
Pfas	A	G	11: 68,891,291 (GRCm39)	F269L	probably damaging	Het
Prkdc	G	A	16: 15,516,679 (GRCm39)	V1018I	probably benign	Het
Prl4a1	T	A	13: 28,202,482 (GRCm39)	V19E	possibly damaging	Het
Ptpn22	A	G	3: 103,792,702 (GRCm39)	D327G	probably benign	Het
Smad3	G	T	9: 63,562,047 (GRCm39)	D310E	probably benign	Het
Sparcl1	T	A	5: 104,232,926 (GRCm39)	D625V	probably damaging	Het
Spta1	G	A	1: 174,058,899 (GRCm39)	A1945T	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sympk	T	C	7: 18,786,423 (GRCm39)	Y1009H	possibly damaging	Het
Trio	A	G	15: 27,752,825 (GRCm39)	F1026L	probably damaging	Het
Unc5d	T	A	8: 29,365,554 (GRCm39)	K144*	probably null	Het
Unk	A	G	11: 115,945,766 (GRCm39)	N479S	possibly damaging	Het
Zfp993	A	G	4: 146,741,975 (GRCm39)	T100A	probably damaging	Het

Other mutations in Zfp710

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Zfp710	APN	7	79,730,871 (GRCm39)	missense	probably damaging	0.99
IGL01623:Zfp710	APN	7	79,730,871 (GRCm39)	missense	probably damaging	0.99
IGL02630:Zfp710	APN	7	79,731,789 (GRCm39)	missense	probably damaging	0.99
IGL02994:Zfp710	APN	7	79,731,581 (GRCm39)	missense	probably benign
R0147:Zfp710	UTSW	7	79,731,721 (GRCm39)	nonsense	probably null
R0462:Zfp710	UTSW	7	79,740,089 (GRCm39)	makesense	probably null
R1488:Zfp710	UTSW	7	79,731,752 (GRCm39)	missense	probably damaging	1.00
R3928:Zfp710	UTSW	7	79,731,134 (GRCm39)	missense	probably damaging	0.98
R5912:Zfp710	UTSW	7	79,731,222 (GRCm39)	missense	probably benign
R6918:Zfp710	UTSW	7	79,731,788 (GRCm39)	missense	possibly damaging	0.85
R7511:Zfp710	UTSW	7	79,732,250 (GRCm39)	nonsense	probably null
R7813:Zfp710	UTSW	7	79,730,859 (GRCm39)	missense	possibly damaging	0.66
R7979:Zfp710	UTSW	7	79,738,327 (GRCm39)	missense	unknown
R8165:Zfp710	UTSW	7	79,735,775 (GRCm39)	missense	probably damaging	1.00
R9128:Zfp710	UTSW	7	79,731,122 (GRCm39)	missense	probably damaging	1.00
R9202:Zfp710	UTSW	7	79,731,609 (GRCm39)	missense	probably damaging	1.00
R9499:Zfp710	UTSW	7	79,731,621 (GRCm39)	missense	probably damaging	0.99
R9593:Zfp710	UTSW	7	79,730,909 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGCTATGGCAGACACACCATAC -3'
(R):5'- CTTCAGCAGTTCCAAGGCTC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TTGCACTTGAACGGCTTC -3'

Posted On

2018-05-04