Mutagenetix > Incidental Mutation

Incidental Mutation 'R3928:Zfp710'

308369

Institutional Source

Beutler Lab

Gene Symbol

Zfp710

Ensembl Gene

ENSMUSG00000048897

Gene Name

zinc finger protein 710

Synonyms

5430400N05Rik

MMRRC Submission

040823-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79674581-79742498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79731134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 104 (R104G)

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: R104G

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

SMART Domains

Protein: ENSMUSP00000050577
Gene: ENSMUSG00000048897
AA Change: R104G

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: R104G

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

SMART Domains

Protein: ENSMUSP00000132361
Gene: ENSMUSG00000048897
AA Change: R104G

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: R104G

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

SMART Domains

Protein: ENSMUSP00000129357
Gene: ENSMUSG00000048897
AA Change: R104G

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: R104G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206104

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,359,561 (GRCm39)	H181Q	probably benign	Het
Atrx	T	C	X: 104,923,523 (GRCm39)	I157V	possibly damaging	Het
Birc6	A	G	17: 74,918,170 (GRCm39)	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,945,404 (GRCm39)	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,552,155 (GRCm39)	F108S	probably damaging	Het
Clasp2	C	A	9: 113,735,173 (GRCm39)	H1004N	probably benign	Het
Cntd1	G	A	11: 101,178,345 (GRCm39)	V315I	probably benign	Het
Col13a1	A	G	10: 61,703,304 (GRCm39)		probably benign	Het
Ctps1	T	A	4: 120,399,093 (GRCm39)	H553L	probably benign	Het
Dpysl2	A	G	14: 67,061,880 (GRCm39)	I242T	possibly damaging	Het
Exoc3l	C	T	8: 106,017,549 (GRCm39)		probably benign	Het
Fam229a	A	G	4: 129,385,204 (GRCm39)		probably benign	Het
Fshr	C	T	17: 89,292,962 (GRCm39)	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267 (GRCm39)		noncoding transcript	Het
Gmpr	A	G	13: 45,683,223 (GRCm39)	I165V	probably benign	Het
Gnat3	G	A	5: 18,208,892 (GRCm39)		probably benign	Het
H1f8	A	G	6: 115,925,757 (GRCm39)	K185E	probably benign	Het
H2-Q4	T	G	17: 35,598,666 (GRCm39)	L16R	unknown	Het
Hs2st1	T	C	3: 144,140,389 (GRCm39)	K311E	possibly damaging	Het
Kcnj15	A	G	16: 95,097,368 (GRCm39)	E330G	possibly damaging	Het
Kif3a	A	G	11: 53,461,441 (GRCm39)	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Lmntd2	C	T	7: 140,791,117 (GRCm39)	G432S	probably damaging	Het
Me3	T	C	7: 89,482,898 (GRCm39)		probably benign	Het
Myo1d	G	T	11: 80,375,087 (GRCm39)	R996S	probably benign	Het
Myo9a	T	A	9: 59,802,566 (GRCm39)	W2018R	probably damaging	Het
Nphp3	G	T	9: 103,888,929 (GRCm39)	V265F	probably damaging	Het
Or10ak9	T	C	4: 118,726,179 (GRCm39)	L66P	probably damaging	Het
Or5p67	A	G	7: 107,922,232 (GRCm39)	I217T	probably benign	Het
Or8c16	T	C	9: 38,130,131 (GRCm39)	M1T	probably null	Het
Pgp	A	G	17: 24,690,315 (GRCm39)	E247G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plch1	G	A	3: 63,675,044 (GRCm39)	A202V	probably damaging	Het
Rbm11	G	A	16: 75,389,932 (GRCm39)		probably null	Het
Scg5	T	C	2: 113,622,230 (GRCm39)	K124R	probably damaging	Het
Serpina3j	A	T	12: 104,285,916 (GRCm39)	H357L	probably damaging	Het
St6gal2	A	G	17: 55,803,324 (GRCm39)	D353G	possibly damaging	Het
Tdpoz3	T	C	3: 93,734,216 (GRCm39)	I297T	possibly damaging	Het
Tdrd5	G	A	1: 156,128,348 (GRCm39)	T136I	probably benign	Het
Tfcp2l1	T	A	1: 118,597,206 (GRCm39)	I429K	possibly damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Top1	T	C	2: 160,529,669 (GRCm39)		probably benign	Het
Trim61	A	G	8: 65,465,969 (GRCm39)	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647 (GRCm39)	G150S	probably damaging	Het
Vmn1r183	T	C	7: 23,754,997 (GRCm39)	S267P	probably damaging	Het
Xirp2	T	A	2: 67,342,013 (GRCm39)	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 23,880,467 (GRCm39)	V271A	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
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
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'- TCAGAAAATGAGCTCTTCGGAG -3'
(R):5'- TGAGGTCGATCATCTTGACG -3'

Sequencing Primer
(F):5'- ATAAGTGCTGAGGCCTTCTATCCAG -3'
(R):5'- GTCGATCATCTTGACGGCACTG -3'

Posted On

2015-04-17