Mutagenetix > Incidental Mutation

Incidental Mutation 'R2148:Zfr2'

234028

Institutional Source

Beutler Lab

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

2010013I23Rik, 9130206N08Rik

MMRRC Submission

040151-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2148 (G1)

Quality Score

116

Status

Not validated

Chromosome

Chromosomal Location

81068989-81087957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81077950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 259 (V259G)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117798] [ENSMUST00000144087]

AlphaFold

E9Q5M4

Predicted Effect

probably benign
Transcript: ENSMUST00000117798
AA Change: V259G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: V259G

Domain	Start	End	E-Value	Type
low complexity region	16	23	N/A	INTRINSIC
low complexity region	44	62	N/A	INTRINSIC
low complexity region	123	163	N/A	INTRINSIC
ZnF_U1	202	236	3.58e-5	SMART
ZnF_C2H2	205	229	7.68e0	SMART
ZnF_U1	249	283	3.78e-4	SMART
ZnF_C2H2	252	276	4.12e0	SMART
ZnF_U1	397	431	3.78e-4	SMART
ZnF_C2H2	400	424	1.99e0	SMART
low complexity region	484	508	N/A	INTRINSIC
DZF	585	837	2.06e-129	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132174

Predicted Effect

probably benign
Transcript: ENSMUST00000144087

SMART Domains

Protein: ENSMUSP00000115001
Gene: ENSMUSG00000034949

Domain	Start	End	E-Value	Type
low complexity region	33	51	N/A	INTRINSIC

Meta Mutation Damage Score

0.3040

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Abca13	A	G	11: 9,565,764 (GRCm39)	Y4796C	probably damaging	Het
Actn2	A	T	13: 12,315,835 (GRCm39)	M228K	probably damaging	Het
Agbl1	T	G	7: 76,064,465 (GRCm39)		probably null	Het
Ahi1	T	G	10: 20,846,875 (GRCm39)	V435G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
Bop1	A	G	15: 76,339,487 (GRCm39)	V286A	probably damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cacna1a	A	T	8: 85,356,304 (GRCm39)	Q1887L	possibly damaging	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Cnot2	A	G	10: 116,342,185 (GRCm39)	I173T	probably benign	Het
Cntnap5b	T	A	1: 100,311,199 (GRCm39)	I564N	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dgkd	T	G	1: 87,809,643 (GRCm39)	N110K	probably damaging	Het
Dhx8	A	T	11: 101,629,203 (GRCm39)	R198*	probably null	Het
Dnah8	A	T	17: 30,956,232 (GRCm39)	I2071F	probably damaging	Het
Dsc3	C	T	18: 20,098,695 (GRCm39)	R828Q	probably damaging	Het
Fbxl4	T	C	4: 22,427,333 (GRCm39)	F525L	possibly damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gpatch1	A	G	7: 34,998,701 (GRCm39)	V343A	probably benign	Het
Gpr139	A	G	7: 118,744,192 (GRCm39)	V131A	probably benign	Het
Hamp	T	C	7: 30,642,137 (GRCm39)	T34A	possibly damaging	Het
Homer2	T	G	7: 81,274,043 (GRCm39)	D51A	possibly damaging	Het
Hspa1l	C	T	17: 35,196,366 (GRCm39)	A135V	probably damaging	Het
Igsf10	A	G	3: 59,243,998 (GRCm39)	M112T	possibly damaging	Het
Ikbkb	A	T	8: 23,172,761 (GRCm39)	L153Q	probably damaging	Het
Kif19a	A	T	11: 114,671,594 (GRCm39)	I158F	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Llcfc1	G	A	6: 41,662,155 (GRCm39)	G53D	possibly damaging	Het
Loxl4	A	G	19: 42,592,631 (GRCm39)		probably null	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Mak	T	C	13: 41,195,513 (GRCm39)	K400R	probably benign	Het
Mgat4c	T	C	10: 102,224,790 (GRCm39)	F335L	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mtor	T	C	4: 148,540,469 (GRCm39)	F245L	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo5a	T	A	9: 75,087,429 (GRCm39)	L1095H	probably damaging	Het
Nlrp1a	T	A	11: 71,013,733 (GRCm39)	K506*	probably null	Het
Or5d18	C	A	2: 87,864,943 (GRCm39)	C180F	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Phkb	A	G	8: 86,744,115 (GRCm39)	D588G	probably damaging	Het
Pkd1l2	A	T	8: 117,783,064 (GRCm39)	I752N	probably damaging	Het
Pkhd1	C	A	1: 20,484,444 (GRCm39)		probably null	Het
Plod3	C	T	5: 137,016,627 (GRCm39)	R30*	probably null	Het
Ppfia4	T	C	1: 134,240,372 (GRCm39)	I591V	probably benign	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Ptgs2	G	T	1: 149,981,465 (GRCm39)	A583S	probably benign	Het
Pycr2	T	C	1: 180,734,413 (GRCm39)	V231A	probably damaging	Het
Ralgapa2	T	C	2: 146,273,807 (GRCm39)	D540G	probably benign	Het
Rasal1	T	A	5: 120,800,096 (GRCm39)	I150N	probably damaging	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Sacs	T	C	14: 61,410,827 (GRCm39)	L34P	probably damaging	Het
Sema3d	A	G	5: 12,534,926 (GRCm39)	Y106C	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Slc19a2	T	C	1: 164,089,657 (GRCm39)	W158R	probably damaging	Het
Sorbs1	A	T	19: 40,365,268 (GRCm39)	F172I	possibly damaging	Het
Spaca7	A	T	8: 12,636,447 (GRCm39)	D91V	probably damaging	Het
Tead3	A	G	17: 28,552,638 (GRCm39)	F187L	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem132c	T	A	5: 127,540,026 (GRCm39)	W351R	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Trap1	T	C	16: 3,878,624 (GRCm39)	D236G	probably damaging	Het
Trim45	T	A	3: 100,839,360 (GRCm39)	L754*	probably null	Het
Tubgcp5	A	G	7: 55,449,259 (GRCm39)	E152G	probably damaging	Het
Uaca	A	T	9: 60,776,961 (GRCm39)	L447F	probably damaging	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Wdr11	A	G	7: 129,230,807 (GRCm39)		probably null	Het
Zfp462	T	A	4: 55,013,670 (GRCm39)	S1879T	probably benign	Het

Other mutations in Zfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Zfr2	APN	10	81,077,919 (GRCm39)	missense	probably damaging	0.96
IGL01622:Zfr2	APN	10	81,087,193 (GRCm39)	missense	probably benign
IGL01623:Zfr2	APN	10	81,087,193 (GRCm39)	missense	probably benign
IGL02719:Zfr2	APN	10	81,080,546 (GRCm39)	missense	probably damaging	1.00
IGL03036:Zfr2	APN	10	81,077,985 (GRCm39)	missense	probably benign	0.01
R0302:Zfr2	UTSW	10	81,087,170 (GRCm39)	unclassified	probably benign
R0837:Zfr2	UTSW	10	81,081,242 (GRCm39)	missense	probably damaging	1.00
R1557:Zfr2	UTSW	10	81,083,225 (GRCm39)	missense	probably benign	0.01
R1714:Zfr2	UTSW	10	81,080,583 (GRCm39)	missense	probably damaging	1.00
R1737:Zfr2	UTSW	10	81,077,919 (GRCm39)	missense	probably damaging	0.96
R1991:Zfr2	UTSW	10	81,078,686 (GRCm39)	missense	possibly damaging	0.86
R2134:Zfr2	UTSW	10	81,078,735 (GRCm39)	missense	probably damaging	1.00
R2150:Zfr2	UTSW	10	81,077,950 (GRCm39)	missense	probably benign	0.13
R3703:Zfr2	UTSW	10	81,081,913 (GRCm39)	missense	probably benign	0.40
R3704:Zfr2	UTSW	10	81,081,913 (GRCm39)	missense	probably benign	0.40
R3705:Zfr2	UTSW	10	81,081,913 (GRCm39)	missense	probably benign	0.40
R3715:Zfr2	UTSW	10	81,081,913 (GRCm39)	missense	probably benign	0.40
R4301:Zfr2	UTSW	10	81,078,018 (GRCm39)	unclassified	probably benign
R4654:Zfr2	UTSW	10	81,087,083 (GRCm39)	splice site	probably null
R4811:Zfr2	UTSW	10	81,079,547 (GRCm39)	missense	probably benign	0.07
R5290:Zfr2	UTSW	10	81,082,544 (GRCm39)	frame shift	probably null
R5781:Zfr2	UTSW	10	81,079,547 (GRCm39)	missense	probably benign	0.07
R7114:Zfr2	UTSW	10	81,080,559 (GRCm39)	missense	probably damaging	1.00
R8192:Zfr2	UTSW	10	81,078,649 (GRCm39)	missense	possibly damaging	0.83
R8359:Zfr2	UTSW	10	81,078,653 (GRCm39)	missense	possibly damaging	0.57
R8389:Zfr2	UTSW	10	81,081,323 (GRCm39)	missense	probably benign
R8827:Zfr2	UTSW	10	81,078,619 (GRCm39)	missense	probably benign	0.00
R8953:Zfr2	UTSW	10	81,084,271 (GRCm39)	missense	probably damaging	0.99
R9086:Zfr2	UTSW	10	81,076,029 (GRCm39)	missense	probably damaging	0.96
R9189:Zfr2	UTSW	10	81,080,496 (GRCm39)	missense	probably damaging	1.00
R9487:Zfr2	UTSW	10	81,075,969 (GRCm39)	missense	probably benign	0.33
R9592:Zfr2	UTSW	10	81,069,580 (GRCm39)	missense	unknown
R9645:Zfr2	UTSW	10	81,084,252 (GRCm39)	nonsense	probably null
X0063:Zfr2	UTSW	10	81,078,791 (GRCm39)	critical splice donor site	probably null
Z1177:Zfr2	UTSW	10	81,081,918 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTCCTACTAGCCAACTGTGTG -3'
(R):5'- CCACATCAGAGCATGCTCAG -3'

Sequencing Primer
(F):5'- TACTAGCCAACTGTGTGGCCTG -3'
(R):5'- TGCTCAGTCACAGTCAACATGG -3'

Posted On

2014-10-01