Mutagenetix > Incidental Mutation

Incidental Mutation 'R9202:Zfp710'

698271

Institutional Source

Beutler Lab

Gene Symbol

Zfp710

Ensembl Gene

ENSMUSG00000048897

Gene Name

zinc finger protein 710

Synonyms

5430400N05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R9202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79674581-79742498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79731609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 262 (G262D)

Ref Sequence

ENSEMBL: ENSMUSP00000050577 (fasta)

Gene Model

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

AlphaFold

Q3U288

Predicted Effect

probably damaging
Transcript: ENSMUST00000049680
AA Change: G262D

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

SMART Domains

Protein: ENSMUSP00000050577
Gene: ENSMUSG00000048897
AA Change: G262D

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: G262D

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

SMART Domains

Protein: ENSMUSP00000132361
Gene: ENSMUSG00000048897
AA Change: G262D

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: ENSMUST00000166250
AA Change: G262D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129357
Gene: ENSMUSG00000048897
AA Change: G262D

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

possibly damaging
Transcript: ENSMUST00000206039
AA Change: G262D

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000206104

Meta Mutation Damage Score

0.1633

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	T	3: 127,479,938 (GRCm39)	I17K		Het
Ampd3	T	C	7: 110,402,346 (GRCm39)	I441T	probably damaging	Het
Ankrd31	C	T	13: 97,015,383 (GRCm39)	Q1551*	probably null	Het
Asphd1	T	A	7: 126,547,934 (GRCm39)	Y123F	probably damaging	Het
Atf2	A	G	2: 73,649,472 (GRCm39)	S380P	probably damaging	Het
Bltp1	A	G	3: 36,944,970 (GRCm39)	S310G	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep72	G	T	13: 74,198,420 (GRCm39)	T320K	probably benign	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Ctnna3	T	G	10: 64,708,947 (GRCm39)	M662R	probably damaging	Het
Cyp2r1	T	G	7: 114,152,047 (GRCm39)		probably benign	Het
Flvcr1	T	A	1: 190,744,351 (GRCm39)	Y399F	probably benign	Het
Gimap8	T	A	6: 48,633,403 (GRCm39)	F407L	probably benign	Het
Insrr	C	T	3: 87,720,427 (GRCm39)	R1022W	probably damaging	Het
Ipo4	A	T	14: 55,868,597 (GRCm39)		probably null	Het
Klhl35	A	G	7: 99,120,212 (GRCm39)	N363S	probably benign	Het
Loxl4	T	C	19: 42,593,452 (GRCm39)	T240A	probably benign	Het
Med23	T	C	10: 24,780,202 (GRCm39)	V950A	probably benign	Het
Nceh1	A	G	3: 27,333,428 (GRCm39)	I175V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Or3a10	A	G	11: 73,935,441 (GRCm39)	S220P	probably damaging	Het
Or5ac24	T	C	16: 59,165,618 (GRCm39)	I149V	probably benign	Het
Or5m5	T	A	2: 85,814,801 (GRCm39)	F206I	probably damaging	Het
Osbpl5	T	C	7: 143,254,498 (GRCm39)	D515G	probably benign	Het
Pafah2	T	C	4: 134,131,440 (GRCm39)	S68P	probably benign	Het
Pcnx2	T	A	8: 126,616,416 (GRCm39)		probably null	Het
Pde11a	G	T	2: 75,853,077 (GRCm39)	S847*	probably null	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel19	A	G	4: 101,797,860 (GRCm39)	D86G	probably damaging	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Ripk2	C	A	4: 16,124,502 (GRCm39)	G402V	probably benign	Het
Speg	T	C	1: 75,367,637 (GRCm39)	S715P	probably damaging	Het
Ttll12	A	G	15: 83,466,264 (GRCm39)	F399S	probably damaging	Het
Ugt1a2	G	T	1: 88,128,375 (GRCm39)	C6F	probably benign	Het
Vars2	T	C	17: 35,977,551 (GRCm39)	Y127C	probably damaging	Het
Vars2	T	C	17: 35,974,444 (GRCm39)		probably null	Het
Vmn2r95	T	C	17: 18,644,394 (GRCm39)	F10S	probably benign	Het
Wdr12	T	C	1: 60,121,205 (GRCm39)	D371G	possibly damaging	Het
Wdr89	C	T	12: 75,679,943 (GRCm39)	E104K	probably benign	Het
Zbtb1	G	T	12: 76,433,784 (GRCm39)	R590L	probably damaging	Het
Zfhx3	A	G	8: 109,677,920 (GRCm39)	D2990G	possibly 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
R6387:Zfp710	UTSW	7	79,735,775 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTTGCCGAGAACTCCAAG -3'
(R):5'- CTTGAAGAGCTTGCTGCAGTG -3'

Sequencing Primer
(F):5'- TGGACATGGCCCCATTCGATC -3'
(R):5'- CACGAGTGTGGCTTGATGC -3'

Posted On

2022-02-07