Mutagenetix > Incidental Mutation

Incidental Mutation 'R3155:Cldn34a'

263482

Institutional Source

Beutler Lab

Gene Symbol

Cldn34a

Ensembl Gene

ENSMUSG00000091863

Gene Name

claudin 34A

Synonyms

Gm7157

MMRRC Submission

040606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.017) question?

Stock #

R3155 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

151320524-151347194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 151346840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 171 (H171Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164764]

AlphaFold

G3UW52

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118211

Predicted Effect

probably benign
Transcript: ENSMUST00000164764
AA Change: H171Y

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128513
Gene: ENSMUSG00000091863
AA Change: H171Y

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,104 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,182,915 (GRCm39)	V487A	probably damaging	Het
Adh1	A	G	3: 137,986,250 (GRCm39)	E79G	probably damaging	Het
Aebp1	A	G	11: 5,821,425 (GRCm39)	N608S	probably benign	Het
Ahctf1	G	A	1: 179,583,148 (GRCm39)	R43C	probably damaging	Het
Ahnak	A	T	19: 8,987,541 (GRCm39)	I2942L	possibly damaging	Het
Anxa9	A	T	3: 95,209,716 (GRCm39)	D134E	probably benign	Het
Ccdc14	A	G	16: 34,544,222 (GRCm39)	D860G	probably damaging	Het
Cdhr3	T	A	12: 33,099,152 (GRCm39)	I480F	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,843 (GRCm39)		probably null	Het
Dmbt1	T	A	7: 130,651,887 (GRCm39)	Y376*	probably null	Het
Fancm	T	C	12: 65,163,195 (GRCm39)	I1453T	probably benign	Het
Fbxw11	A	G	11: 32,689,244 (GRCm39)	I456V	possibly damaging	Het
Fut2	A	T	7: 45,300,091 (GRCm39)	L227Q	probably damaging	Het
Gbp5	T	C	3: 142,208,888 (GRCm39)		probably null	Het
Glrp1	C	A	1: 88,430,976 (GRCm39)	Q131H	unknown	Het
Gm6871	T	C	7: 41,223,079 (GRCm39)	N3S	probably benign	Het
H2-Eb1	C	A	17: 34,533,348 (GRCm39)	T190K	probably damaging	Het
Kdr	T	A	5: 76,129,065 (GRCm39)	I194F	probably benign	Het
Klhdc7a	A	G	4: 139,694,500 (GRCm39)	V149A	probably benign	Het
Lrit3	A	G	3: 129,585,044 (GRCm39)	F238S	probably benign	Het
Map10	A	T	8: 126,398,313 (GRCm39)	I569F	possibly damaging	Het
Myh6	A	G	14: 55,182,125 (GRCm39)	I1761T	probably damaging	Het
Npc1l1	A	C	11: 6,171,840 (GRCm39)	D874E	probably benign	Het
Or4k15c	T	C	14: 50,321,982 (GRCm39)	D52G	probably benign	Het
Or8c17	T	A	9: 38,179,836 (GRCm39)	M1K	probably null	Het
Pawr	A	G	10: 108,245,370 (GRCm39)	T193A	probably benign	Het
Ppp2r3d	T	C	9: 101,089,559 (GRCm39)	K255E	possibly damaging	Het
Rbp3	A	T	14: 33,679,071 (GRCm39)	K1006N	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,771 (GRCm39)	K489R	probably benign	Het
Rlf	A	G	4: 121,006,529 (GRCm39)	V817A	probably damaging	Het
Rusc1	T	C	3: 88,999,038 (GRCm39)	D248G	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Stk4	T	A	2: 163,993,663 (GRCm39)	M98K	probably benign	Het
Taf15	T	A	11: 83,393,599 (GRCm39)	H307Q	probably benign	Het
Urgcp	A	T	11: 5,666,327 (GRCm39)	F670L	probably damaging	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het
Zfp324	G	A	7: 12,702,817 (GRCm39)	M60I	probably damaging	Het

Other mutations in Cldn34a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1990:Cldn34a	UTSW	X	151,346,841 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CCTGATGTTGACTACCAGCC -3'
(R):5'- AATCCTTGCTGAACCAACATG -3'

Sequencing Primer
(F):5'- GCTCTTAGAAATGTGTACACGG -3'
(R):5'- GCTGAACCAACATGAAGTTTTTG -3'

Posted On

2015-02-05