Mutagenetix > Incidental Mutation

Incidental Mutation 'R1201:Zfp251'

101421

Institutional Source

Beutler Lab

Gene Symbol

Zfp251

Ensembl Gene

ENSMUSG00000022526

Gene Name

zinc finger protein 251

Synonyms

9130001M19Rik

MMRRC Submission

039271-MU

Accession Numbers

Essential gene?

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

Stock #

R1201 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76736331-76755635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76738436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 219 (R219Q)

Ref Sequence

ENSEMBL: ENSMUSP00000079268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080406] [ENSMUST00000229494]

AlphaFold

Q6PCX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080406
AA Change: R219Q

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079268
Gene: ENSMUSG00000022526
AA Change: R219Q

Domain	Start	End	E-Value	Type
KRAB	15	75	3.24e-32	SMART
ZnF_C2H2	202	224	3.69e-4	SMART
ZnF_C2H2	230	252	3.34e-2	SMART
ZnF_C2H2	258	280	1.69e-3	SMART
ZnF_C2H2	286	308	1.18e-2	SMART
ZnF_C2H2	314	336	4.94e-5	SMART
ZnF_C2H2	342	364	1.82e-3	SMART
ZnF_C2H2	370	392	2.71e-2	SMART
ZnF_C2H2	398	420	1.56e-2	SMART
ZnF_C2H2	426	448	1.2e-3	SMART
ZnF_C2H2	454	476	1.28e-3	SMART
ZnF_C2H2	482	504	1.3e-4	SMART
PDB:1MEY\|G	551	610	2e-8	PDB
Blast:PHD	556	610	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000229494
AA Change: R214Q

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230315

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,546,626 (GRCm39)	T103A	possibly damaging	Het
Acly	A	G	11: 100,384,761 (GRCm39)	I674T	probably damaging	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Actc1	A	G	2: 113,879,994 (GRCm39)		probably null	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Arhgap40	A	C	2: 158,376,689 (GRCm39)	D275A	probably damaging	Het
Bltp1	A	G	3: 37,002,524 (GRCm39)	S1490G	probably benign	Het
Car11	A	G	7: 45,352,904 (GRCm39)	D221G	probably benign	Het
Catsperg1	A	T	7: 28,891,095 (GRCm39)	H596Q	possibly damaging	Het
Ccm2	T	C	11: 6,543,682 (GRCm39)	V231A	probably benign	Het
Crh	A	G	3: 19,748,090 (GRCm39)	I184T	probably damaging	Het
Csgalnact2	A	G	6: 118,091,393 (GRCm39)	S424P	probably damaging	Het
Dbf4	A	C	5: 8,447,498 (GRCm39)	L571V	possibly damaging	Het
Fancm	A	G	12: 65,153,542 (GRCm39)	K66E	possibly damaging	Het
Hydin	T	C	8: 111,296,487 (GRCm39)	V3672A	probably benign	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Krt36	T	C	11: 99,994,883 (GRCm39)	N230D	probably benign	Het
Nlrp4b	G	T	7: 10,449,363 (GRCm39)	R522L	possibly damaging	Het
Ntn1	T	C	11: 68,104,052 (GRCm39)	D532G	probably damaging	Het
Numb	A	T	12: 83,848,059 (GRCm39)	V215D	probably damaging	Het
Or1x2	T	A	11: 50,917,937 (GRCm39)	M36K	probably damaging	Het
Or4k15	T	A	14: 50,364,813 (GRCm39)	W260R	probably damaging	Het
Or5k8	A	G	16: 58,644,226 (GRCm39)	I282T	probably damaging	Het
Or6b2b	T	G	1: 92,418,875 (GRCm39)	I201L	probably benign	Het
Or7a39	A	T	10: 78,715,311 (GRCm39)	M102L	probably benign	Het
Otulinl	G	A	15: 27,658,259 (GRCm39)	Q84*	probably null	Het
Pidd1	A	G	7: 141,020,187 (GRCm39)	F580L	probably benign	Het
Plekhg4	A	G	8: 106,108,305 (GRCm39)	D1116G	probably damaging	Het
Prss33	G	T	17: 24,054,084 (GRCm39)	S74*	probably null	Het
Rab34	T	A	11: 78,081,222 (GRCm39)		probably null	Het
Rims2	A	C	15: 39,479,720 (GRCm39)	T1251P	possibly damaging	Het
Skint5	A	G	4: 113,413,342 (GRCm39)	S1152P	unknown	Het
Slc6a17	T	A	3: 107,400,388 (GRCm39)	Q206L	possibly damaging	Het
Tmem59l	C	T	8: 70,937,037 (GRCm39)	W310*	probably null	Het
Tnrc6c	T	G	11: 117,612,500 (GRCm39)	N379K	probably damaging	Het
Vmn1r76	A	C	7: 11,664,252 (GRCm39)	F286V	probably benign	Het
Xdh	T	C	17: 74,225,413 (GRCm39)	D463G	probably benign	Het
Zfp263	T	A	16: 3,567,294 (GRCm39)	H536Q	probably damaging	Het
Zfp607a	T	A	7: 27,578,736 (GRCm39)	F602Y	probably damaging	Het

Other mutations in Zfp251

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Zfp251	APN	15	76,738,755 (GRCm39)	missense	probably benign	0.33
IGL02868:Zfp251	APN	15	76,738,734 (GRCm39)	missense	probably damaging	1.00
R0011:Zfp251	UTSW	15	76,738,754 (GRCm39)	missense	probably benign	0.42
R0011:Zfp251	UTSW	15	76,738,754 (GRCm39)	missense	probably benign	0.42
R1199:Zfp251	UTSW	15	76,738,436 (GRCm39)	missense	possibly damaging	0.73
R1321:Zfp251	UTSW	15	76,738,436 (GRCm39)	missense	possibly damaging	0.73
R1322:Zfp251	UTSW	15	76,738,436 (GRCm39)	missense	possibly damaging	0.73
R1565:Zfp251	UTSW	15	76,737,239 (GRCm39)	missense	possibly damaging	0.81
R1565:Zfp251	UTSW	15	76,737,238 (GRCm39)	missense	probably damaging	0.96
R1587:Zfp251	UTSW	15	76,754,484 (GRCm39)	missense	probably damaging	0.98
R1752:Zfp251	UTSW	15	76,737,863 (GRCm39)	missense	possibly damaging	0.71
R3771:Zfp251	UTSW	15	76,737,836 (GRCm39)	missense	possibly damaging	0.67
R3772:Zfp251	UTSW	15	76,737,836 (GRCm39)	missense	possibly damaging	0.67
R3773:Zfp251	UTSW	15	76,737,836 (GRCm39)	missense	possibly damaging	0.67
R4684:Zfp251	UTSW	15	76,738,607 (GRCm39)	missense	possibly damaging	0.85
R5733:Zfp251	UTSW	15	76,754,527 (GRCm39)	missense	probably damaging	1.00
R6341:Zfp251	UTSW	15	76,738,337 (GRCm39)	missense	probably damaging	1.00
R7050:Zfp251	UTSW	15	76,738,496 (GRCm39)	missense	possibly damaging	0.53
R7605:Zfp251	UTSW	15	76,738,557 (GRCm39)	missense	possibly damaging	0.53
R8783:Zfp251	UTSW	15	76,737,413 (GRCm39)	missense	probably damaging	1.00
R9662:Zfp251	UTSW	15	76,737,520 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AGCCTTTCCACACCAAGTGCAG -3'
(R):5'- TAGGGAGCAGTTTCCCAAGAACGC -3'

Sequencing Primer
(F):5'- ccttcccacactccttacac -3'
(R):5'- AGAACGCCCAGACTTCTGTG -3'

Posted On

2014-01-15