Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03243:Znrf2'

414304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Znrf2

Ensembl Gene

ENSMUSG00000058446

Gene Name

zinc and ring finger 2

Synonyms

D6Ertd365e, 1190002C14Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

54793901-54867209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54861754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 222 (I222L)

Ref Sequence

ENSEMBL: ENSMUSP00000078795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079869] [ENSMUST00000127331]

AlphaFold

Q71FD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079869
AA Change: I222L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078795
Gene: ENSMUSG00000058446
AA Change: I222L

Domain	Start	End	E-Value	Type
low complexity region	18	71	N/A	INTRINSIC
low complexity region	72	92	N/A	INTRINSIC
low complexity region	120	136	N/A	INTRINSIC
RING	195	235	9.83e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127331
AA Change: I78L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123316
Gene: ENSMUSG00000058446
AA Change: I78L

Domain	Start	End	E-Value	Type
RING	51	91	9.83e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,733 (GRCm39)	T586A	probably benign	Het
Agtr1b	T	C	3: 20,369,959 (GRCm39)	T216A	probably benign	Het
Ankdd1a	T	C	9: 65,408,752 (GRCm39)	R505G	probably benign	Het
Anxa3	A	T	5: 96,976,551 (GRCm39)		probably benign	Het
Atp6v1c2	C	T	12: 17,339,122 (GRCm39)	V210I	probably benign	Het
BC034090	G	A	1: 155,101,401 (GRCm39)	P288S	possibly damaging	Het
Catsper2	T	C	2: 121,237,300 (GRCm39)	H200R	probably benign	Het
Ceacam23	A	T	7: 17,652,574 (GRCm39)		noncoding transcript	Het
Cntnap5c	G	T	17: 58,409,171 (GRCm39)	A470S	probably benign	Het
Fcho2	G	A	13: 98,913,892 (GRCm39)		probably benign	Het
Frem1	A	C	4: 82,932,206 (GRCm39)	L165R	probably damaging	Het
Gpn1	G	A	5: 31,668,175 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,242,301 (GRCm39)	N181S	probably benign	Het
Heatr5b	A	T	17: 79,070,509 (GRCm39)		probably benign	Het
Kat6a	A	G	8: 23,400,238 (GRCm39)	N333S	possibly damaging	Het
Lrp5	T	C	19: 3,680,159 (GRCm39)	T442A	probably benign	Het
Myo15a	G	T	11: 60,387,344 (GRCm39)	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,064,457 (GRCm39)	D957A	probably damaging	Het
Nup58	T	A	14: 60,459,065 (GRCm39)	T521S	probably benign	Het
Or7e165	T	G	9: 19,694,564 (GRCm39)	I45S	probably damaging	Het
Plek	C	A	11: 16,945,319 (GRCm39)	V4L	possibly damaging	Het
Sell	T	A	1: 163,892,911 (GRCm39)	H42Q	possibly damaging	Het
Slfn8	A	T	11: 82,894,533 (GRCm39)	I702K	probably damaging	Het
Svep1	T	C	4: 58,133,387 (GRCm39)	I573V	probably benign	Het
Tgm1	T	A	14: 55,943,364 (GRCm39)	I526F	probably damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Tox	T	C	4: 6,697,597 (GRCm39)	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 53,007,555 (GRCm39)		probably benign	Het
Unc13d	A	T	11: 115,958,670 (GRCm39)	V784D	probably benign	Het
Vmn2r68	A	G	7: 84,882,963 (GRCm39)	V263A	possibly damaging	Het
Zfp385c	A	T	11: 100,525,573 (GRCm39)	V56D	probably damaging	Het

Other mutations in Znrf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Znrf2	APN	6	54,840,957 (GRCm39)	missense	probably damaging	1.00
R3406:Znrf2	UTSW	6	54,861,776 (GRCm39)	missense	probably damaging	1.00
R4168:Znrf2	UTSW	6	54,840,945 (GRCm39)	missense	possibly damaging	0.47
R4604:Znrf2	UTSW	6	54,855,425 (GRCm39)	nonsense	probably null
R6575:Znrf2	UTSW	6	54,855,430 (GRCm39)	missense	probably damaging	1.00
R7076:Znrf2	UTSW	6	54,819,680 (GRCm39)	makesense	probably null
R7880:Znrf2	UTSW	6	54,794,332 (GRCm39)	missense	probably benign	0.06
R9641:Znrf2	UTSW	6	54,861,788 (GRCm39)	missense	probably damaging	1.00
R9673:Znrf2	UTSW	6	54,840,978 (GRCm39)	missense	probably damaging	1.00
R9741:Znrf2	UTSW	6	54,855,370 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02