Mutagenetix > Incidental Mutation

Incidental Mutation 'R4474:Zfp36l3'

330505

Institutional Source

Beutler Lab

Gene Symbol

Zfp36l3

Ensembl Gene

ENSMUSG00000059334

Gene Name

zinc finger protein 36, C3H type-like 3

Synonyms

MMRRC Submission

041731-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R4474 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

52776015-52778361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52777924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 97 (N97D)

Ref Sequence

ENSEMBL: ENSMUSP00000071630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067782] [ENSMUST00000071711]

AlphaFold

Q5ISE2

Predicted Effect

probably benign
Transcript: ENSMUST00000067782

SMART Domains

Protein: ENSMUSP00000066162
Gene: ENSMUSG00000054626

Domain	Start	End	E-Value	Type
Pfam:Cor1	60	177	1.8e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071711
AA Change: N97D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071630
Gene: ENSMUSG00000059334
AA Change: N97D

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	15	35	N/A	INTRINSIC
ZnF_C3H1	122	149	1.93e-7	SMART
ZnF_C3H1	160	187	1.36e-7	SMART
low complexity region	235	252	N/A	INTRINSIC
low complexity region	281	294	N/A	INTRINSIC
low complexity region	319	329	N/A	INTRINSIC
transmembrane domain	378	400	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	439	461	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC
low complexity region	633	648	N/A	INTRINSIC
low complexity region	659	666	N/A	INTRINSIC
low complexity region	670	707	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119948

Meta Mutation Damage Score

0.1800

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (36/38)

MGI Phenotype

PHENOTYPE: Null mice show decreased neonatal survival rates but those that survive are viable and fertile. Iron and zinc levels are decreased in fetuses. Paternal imprinting occurs in heterozygous females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,124,598 (GRCm39)	I397K	possibly damaging	Het
Alpk1	T	C	3: 127,473,667 (GRCm39)	T779A	probably damaging	Het
Cdh23	G	T	10: 60,146,865 (GRCm39)	A2795D	probably damaging	Het
Cdk19	G	A	10: 40,345,952 (GRCm39)		probably null	Het
Cep104	T	A	4: 154,073,693 (GRCm39)	M476K	possibly damaging	Het
Csf1	T	C	3: 107,661,172 (GRCm39)	D115G	probably damaging	Het
Dclre1b	C	A	3: 103,714,559 (GRCm39)		probably benign	Het
Fbp1	A	G	13: 63,023,075 (GRCm39)	L74P	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hydin	G	T	8: 111,290,497 (GRCm39)	V3319L	probably benign	Het
Kcna4	A	G	2: 107,126,352 (GRCm39)	N362S	probably benign	Het
Kif13a	C	T	13: 46,967,631 (GRCm39)		probably null	Het
Lingo2	T	C	4: 35,708,810 (GRCm39)	E390G	probably benign	Het
Mdh1	T	G	11: 21,516,624 (GRCm39)	D33A	possibly damaging	Het
Mov10	C	T	3: 104,725,781 (GRCm39)	G21D	probably damaging	Het
Muc21	G	T	17: 35,931,496 (GRCm39)		probably benign	Het
Or4f56	G	A	2: 111,703,784 (GRCm39)	R139W	possibly damaging	Het
Or7g32	T	A	9: 19,408,173 (GRCm39)	L43Q	probably damaging	Het
Parn	A	G	16: 13,482,549 (GRCm39)	S100P	probably benign	Het
Pik3c2g	T	A	6: 139,610,749 (GRCm39)	Y332N	probably damaging	Het
Rab22a	C	T	2: 173,537,056 (GRCm39)	T85M	probably damaging	Het
Rims2	A	G	15: 39,325,956 (GRCm39)	S763G	probably damaging	Het
Sarm1	T	A	11: 78,387,927 (GRCm39)	I120L	probably benign	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Snx31	A	G	15: 36,546,256 (GRCm39)		probably benign	Het
Tmem150a	C	T	6: 72,334,035 (GRCm39)	S39F	probably benign	Het
Tsc2	T	A	17: 24,816,238 (GRCm39)	H1605L	probably damaging	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,143,650 (GRCm39)		probably benign	Het
Vmn2r95	T	C	17: 18,672,507 (GRCm39)	L820P	probably damaging	Het

Other mutations in Zfp36l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Zfp36l3	APN	X	52,777,624 (GRCm39)	missense	probably benign	0.18
R4175:Zfp36l3	UTSW	X	52,777,840 (GRCm39)	missense	possibly damaging	0.71
R9378:Zfp36l3	UTSW	X	52,776,521 (GRCm39)	small deletion	probably benign
Z1176:Zfp36l3	UTSW	X	52,776,787 (GRCm39)	missense	probably benign	0.23
Z1177:Zfp36l3	UTSW	X	52,777,766 (GRCm39)	nonsense	probably null
Z1177:Zfp36l3	UTSW	X	52,776,355 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGACAGGGTACGCAGTTCG -3'
(R):5'- ACTAATGTGGCTGATTCTTCCAAC -3'

Sequencing Primer
(F):5'- AGTTCGCGGTAGCCATGC -3'
(R):5'- GTGGCTGATTCTTCCAACTCCAG -3'

Posted On

2015-07-21