Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01676:Zfp36l3'

103645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp36l3

Ensembl Gene

ENSMUSG00000059334

Gene Name

zinc finger protein 36, C3H type-like 3

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01676

Quality Score

Status

Chromosome

Chromosomal Location

52776015-52778361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52777624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 197 (S197G)

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

probably benign
Transcript: ENSMUST00000071711
AA Change: S197G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071630
Gene: ENSMUSG00000059334
AA Change: S197G

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

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	T	7: 119,307,866 (GRCm39)	R334S	probably benign	Het
Adamts3	A	T	5: 89,825,613 (GRCm39)	F1075L	probably benign	Het
Adamts3	A	G	5: 90,029,402 (GRCm39)	V30A	possibly damaging	Het
Bpifb5	A	G	2: 154,070,969 (GRCm39)	N223D	possibly damaging	Het
Cacna1e	T	C	1: 154,274,222 (GRCm39)	R2228G	probably damaging	Het
Cacna1e	T	C	1: 154,288,196 (GRCm39)	E1894G	probably damaging	Het
Calr4	A	G	4: 109,101,447 (GRCm39)	K110E	probably damaging	Het
Catsperz	G	T	19: 6,902,421 (GRCm39)	Y24*	probably null	Het
Clec9a	T	G	6: 129,398,118 (GRCm39)	S219A	probably benign	Het
Csrnp3	T	A	2: 65,779,336 (GRCm39)	I16N	probably damaging	Het
Ddx19a	A	G	8: 111,707,621 (GRCm39)		probably null	Het
Diaph1	G	A	18: 37,989,241 (GRCm39)	Q905*	probably null	Het
Dnah10	T	C	5: 124,880,392 (GRCm39)	M2743T	possibly damaging	Het
Ears2	A	T	7: 121,643,781 (GRCm39)	D392E	probably benign	Het
Fsip1	T	C	2: 118,070,865 (GRCm39)		probably benign	Het
Ighv1-74	T	C	12: 115,766,323 (GRCm39)	Y98C	possibly damaging	Het
Igsf10	T	C	3: 59,233,432 (GRCm39)	K1767R	probably benign	Het
Igsf10	C	T	3: 59,236,756 (GRCm39)	A1142T	probably benign	Het
Lpar6	A	G	14: 73,477,010 (GRCm39)	N324D	probably benign	Het
Lrit1	T	A	14: 36,779,394 (GRCm39)	L109Q	probably damaging	Het
Nlrp4f	A	T	13: 65,342,933 (GRCm39)	D237E	possibly damaging	Het
Oas1h	G	T	5: 121,009,897 (GRCm39)	G324V	probably damaging	Het
Pak1	T	G	7: 97,532,738 (GRCm39)	D179E	probably benign	Het
Prop1	T	A	11: 50,842,956 (GRCm39)	Q77L	probably damaging	Het
Scn10a	A	T	9: 119,501,231 (GRCm39)	Y184*	probably null	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Trim67	A	T	8: 125,541,899 (GRCm39)	I366F	possibly damaging	Het
Vmn2r94	T	G	17: 18,477,272 (GRCm39)	M380L	probably benign	Het
Vmn2r-ps158	A	G	7: 42,674,133 (GRCm39)	N397S	probably damaging	Het
Zfand3	T	G	17: 30,354,337 (GRCm39)	S51R	possibly damaging	Het

Other mutations in Zfp36l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4175:Zfp36l3	UTSW	X	52,777,840 (GRCm39)	missense	possibly damaging	0.71
R4474:Zfp36l3	UTSW	X	52,777,924 (GRCm39)	missense	possibly damaging	0.53
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

Posted On

2014-01-21