Mutagenetix > Incidental Mutation

Incidental Mutation 'R4175:Zfp36l3'

318286

Institutional Source

Beutler Lab

Gene Symbol

Zfp36l3

Ensembl Gene

ENSMUSG00000059334

Gene Name

zinc finger protein 36, C3H type-like 3

Synonyms

MMRRC Submission

041013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R4175 (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 52777840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 125 (T125A)

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: T125A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071630
Gene: ENSMUSG00000059334
AA Change: T125A

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

0.3829

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (46/48)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd63	T	C	2: 118,533,100 (GRCm39)	M274V	probably benign	Het
Ano6	A	T	15: 95,860,050 (GRCm39)	D724V	probably damaging	Het
Apobec3	A	G	15: 79,779,653 (GRCm39)	N43S	probably damaging	Het
Arfgef1	T	C	1: 10,229,861 (GRCm39)	H1280R	probably damaging	Het
Cbfa2t3	C	T	8: 123,370,057 (GRCm39)	V139M	probably damaging	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Clmp	A	T	9: 40,682,432 (GRCm39)	N72I	probably benign	Het
Col11a1	A	C	3: 114,001,872 (GRCm39)	D432A	possibly damaging	Het
Creb3l1	A	G	2: 91,813,520 (GRCm39)	F506L	probably benign	Het
Ctbp1	A	G	5: 33,424,250 (GRCm39)	S47P	probably damaging	Het
Dus1l	G	A	11: 120,686,506 (GRCm39)	R12C	possibly damaging	Het
Elp5	T	C	11: 69,861,388 (GRCm39)	Q197R	probably null	Het
Epb41l4b	A	G	4: 57,076,556 (GRCm39)	V326A	probably damaging	Het
Fhdc1	T	C	3: 84,364,294 (GRCm39)		probably benign	Het
Gm27013	T	A	6: 130,654,110 (GRCm39)	T451S	probably benign	Het
Ifi208	A	T	1: 173,510,267 (GRCm39)	M141L	probably benign	Het
Inpp5e	A	G	2: 26,290,937 (GRCm39)	S377P	probably damaging	Het
Kat2a	A	G	11: 100,596,092 (GRCm39)	L822P	probably damaging	Het
Kcnip2	G	C	19: 45,800,654 (GRCm39)	T24S	probably benign	Het
Med17	A	G	9: 15,178,765 (GRCm39)	Y469H	possibly damaging	Het
Mindy3	C	T	2: 12,410,676 (GRCm39)	C77Y	probably damaging	Het
Mmp1a	A	G	9: 7,467,236 (GRCm39)	T271A	probably benign	Het
Ncor2	A	T	5: 125,128,020 (GRCm39)	S118T	probably damaging	Het
Or5ak24	A	T	2: 85,260,962 (GRCm39)	D70E	probably damaging	Het
Osmr	A	T	15: 6,882,027 (GRCm39)	V39D	probably damaging	Het
Pcdh15	G	A	10: 74,467,829 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,763,889 (GRCm39)	K836E	probably damaging	Het
Phaf1	T	C	8: 105,967,763 (GRCm39)	L218P	probably benign	Het
Pik3r1	A	T	13: 101,838,240 (GRCm39)	L272H	probably damaging	Het
Pik3r1	G	A	13: 101,838,241 (GRCm39)	L272F	probably benign	Het
Prrc2b	G	GCT	2: 32,108,820 (GRCm39)		probably benign	Het
Ptprq	T	G	10: 107,547,778 (GRCm39)	I207L	probably benign	Het
Rasa2	G	T	9: 96,442,830 (GRCm39)	T531K	probably benign	Het
Six4	G	A	12: 73,155,605 (GRCm39)	T454I	probably damaging	Het
Slc26a6	G	A	9: 108,731,416 (GRCm39)		probably benign	Het
Slc7a13	G	A	4: 19,819,492 (GRCm39)	G231R	probably null	Het
Slco3a1	T	A	7: 73,968,302 (GRCm39)	N473Y	probably damaging	Het
Tapt1	G	A	5: 44,334,447 (GRCm39)	L515F	probably benign	Het
Tmem145	T	C	7: 25,008,218 (GRCm39)	I253T	probably benign	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Unc13a	A	G	8: 72,120,368 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,173,970 (GRCm39)	V101A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCAAGGTGCTCTCGGAAAG -3'
(R):5'- TACAATAATGGTCAGTCGGGG -3'

Sequencing Primer
(F):5'- CTCTCGGAAAGCACAGGTTG -3'
(R):5'- TAATGGTCAGTCGGGGGCAAC -3'

Posted On

2015-06-10