Mutagenetix > Incidental Mutation

Incidental Mutation 'R3441:Clrn3'

267383

Institutional Source

Beutler Lab

Gene Symbol

Clrn3

Ensembl Gene

ENSMUSG00000050866

Gene Name

clarin 3

Synonyms

Tmem12

MMRRC Submission

040659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135113195-135130383 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 135115854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 165 (Y165*)

Ref Sequence

ENSEMBL: ENSMUSP00000056245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053716]

AlphaFold

Q8BHH8

Predicted Effect

probably null
Transcript: ENSMUST00000053716
AA Change: Y165*

SMART Domains

Protein: ENSMUSP00000056245
Gene: ENSMUSG00000050866
AA Change: Y165*

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	91	113	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
transmembrane domain	179	201	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,170,759 (GRCm39)		probably benign	Het
Ap5b1	A	G	19: 5,620,011 (GRCm39)	H477R	probably benign	Het
Asz1	A	C	6: 18,108,405 (GRCm39)	S68A	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Btnl6	T	C	17: 34,727,292 (GRCm39)	K413E	probably benign	Het
Cav3	G	A	6: 112,449,402 (GRCm39)	C140Y	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap91	T	C	16: 38,154,168 (GRCm39)	M126V	probably benign	Het
Cp	A	T	3: 20,029,121 (GRCm39)	M533L	probably benign	Het
Cyba	C	T	8: 123,151,803 (GRCm39)	W103*	probably null	Het
Epha4	G	T	1: 77,403,333 (GRCm39)	N95K	possibly damaging	Het
Fsip2	A	G	2: 82,817,071 (GRCm39)	N4268S	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gtf3c6	T	A	10: 40,127,169 (GRCm39)	E123V	probably null	Het
Htr3b	T	C	9: 48,856,815 (GRCm39)	D221G	probably benign	Het
Hyal6	C	T	6: 24,734,592 (GRCm39)	A175V	probably benign	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Krtap24-1	T	C	16: 88,408,713 (GRCm39)	T138A	probably damaging	Het
Mrc2	A	T	11: 105,238,542 (GRCm39)	T1230S	possibly damaging	Het
Mx1	T	A	16: 97,257,431 (GRCm39)	I109F	probably damaging	Het
Nav3	A	G	10: 109,540,789 (GRCm39)	F1947S	probably benign	Het
Or12e1	A	G	2: 87,022,162 (GRCm39)	I44V	probably benign	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Plxnc1	G	A	10: 94,706,872 (GRCm39)	T555I	probably benign	Het
Rab21	CCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCC	10: 115,151,214 (GRCm39)		probably benign	Het
Rag2	T	A	2: 101,460,645 (GRCm39)	F318L	probably damaging	Het
Scgb2b24	G	T	7: 33,438,025 (GRCm39)	F27L	probably damaging	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Teddm1b	A	G	1: 153,751,007 (GRCm39)	E272G	probably benign	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het
Tfpi2	A	T	6: 3,965,504 (GRCm39)	Y103N	probably benign	Het
Tmem98	A	G	11: 80,705,125 (GRCm39)	N71S	probably damaging	Het
Vmn1r181	A	G	7: 23,684,308 (GRCm39)	I258V	probably benign	Het

Other mutations in Clrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0550:Clrn3	UTSW	7	135,130,154 (GRCm39)	missense	possibly damaging	0.76
R1676:Clrn3	UTSW	7	135,120,307 (GRCm39)	missense	probably damaging	0.96
R1935:Clrn3	UTSW	7	135,115,753 (GRCm39)	missense	possibly damaging	0.84
R1936:Clrn3	UTSW	7	135,115,753 (GRCm39)	missense	possibly damaging	0.84
R1950:Clrn3	UTSW	7	135,115,813 (GRCm39)	missense	possibly damaging	0.46
R1993:Clrn3	UTSW	7	135,115,848 (GRCm39)	missense	probably benign
R3440:Clrn3	UTSW	7	135,115,854 (GRCm39)	nonsense	probably null
R3890:Clrn3	UTSW	7	135,120,194 (GRCm39)	missense	possibly damaging	0.74
R3891:Clrn3	UTSW	7	135,120,194 (GRCm39)	missense	possibly damaging	0.74
R5537:Clrn3	UTSW	7	135,115,791 (GRCm39)	missense	probably benign	0.01
R7330:Clrn3	UTSW	7	135,130,198 (GRCm39)	missense	probably damaging	0.99
R8165:Clrn3	UTSW	7	135,130,133 (GRCm39)	missense	probably benign	0.00
R8675:Clrn3	UTSW	7	135,115,880 (GRCm39)	missense	possibly damaging	0.92
X0066:Clrn3	UTSW	7	135,115,926 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGGAGCATATTCCACCGG -3'
(R):5'- AATGTTCGTTGGCTTCCACG -3'

Sequencing Primer
(F):5'- GAGCATATTCCACCGGCTTCC -3'
(R):5'- TCCACGTGTGTACACATACATG -3'

Posted On

2015-02-18