Mutagenetix > Incidental Mutation

Incidental Mutation 'R9683:Znrf3'

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Institutional Source

Beutler Lab

Gene Symbol

Znrf3

Ensembl Gene

ENSMUSG00000041961

Gene Name

zinc and ring finger 3

Synonyms

LOC382477

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9683 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

5226329-5394847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5394465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 72 (T72A)

Ref Sequence

ENSEMBL: ENSMUSP00000122475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109867] [ENSMUST00000143746]

AlphaFold

Q5SSZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109867
AA Change: T72A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: T72A

Domain	Start	End	E-Value	Type
signal peptide	1	52	N/A	INTRINSIC
PDB:4CDK\|D	53	205	1e-103	PDB
transmembrane domain	218	235	N/A	INTRINSIC
RING	290	330	1.56e-6	SMART
low complexity region	442	455	N/A	INTRINSIC
low complexity region	545	567	N/A	INTRINSIC
low complexity region	895	913	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143746
AA Change: T72A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122475
Gene: ENSMUSG00000041961
AA Change: T72A

Domain	Start	End	E-Value	Type
signal peptide	1	52	N/A	INTRINSIC
PDB:4CDK\|D	53	205	1e-111	PDB
low complexity region	209	225	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit complete lethality around birth, aphakia, abnormal lens development and defective enural tube closure in some mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,200,095 (GRCm39)	G499D	probably benign	Het
Acr	T	A	15: 89,457,440 (GRCm39)	Y229*	probably null	Het
Adam6b	G	T	12: 113,454,176 (GRCm39)	C331F	probably benign	Het
Ahnak	T	C	19: 8,984,719 (GRCm39)	V2001A	possibly damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Anln	A	T	9: 22,283,536 (GRCm39)	C432*	probably null	Het
Aox4	T	C	1: 58,278,462 (GRCm39)		probably null	Het
Astn1	A	G	1: 158,491,619 (GRCm39)	I1007V	possibly damaging	Het
Bicral	T	C	17: 47,122,944 (GRCm39)	D649G	possibly damaging	Het
C1qbp	G	A	11: 70,873,749 (GRCm39)	R10C	probably damaging	Het
Cass4	C	T	2: 172,268,656 (GRCm39)	P246L	probably damaging	Het
Celsr3	T	A	9: 108,704,522 (GRCm39)	V335E	probably damaging	Het
Cfap52	T	A	11: 67,822,639 (GRCm39)	T411S	probably benign	Het
Cnot6	A	T	11: 49,580,164 (GRCm39)	L43I	possibly damaging	Het
Col9a3	G	A	2: 180,248,322 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,426,509 (GRCm39)	R210G	probably benign	Het
Fat4	A	G	3: 38,943,332 (GRCm39)	S742G	possibly damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Glrx2	A	G	1: 143,622,292 (GRCm39)	D96G	probably damaging	Het
Gm8369	T	C	19: 11,489,097 (GRCm39)	L128P	probably damaging	Het
Gpr155	A	G	2: 73,192,780 (GRCm39)	I585T	probably benign	Het
Heatr1	T	C	13: 12,449,140 (GRCm39)	S1907P	probably damaging	Het
Hscb	T	C	5: 110,983,881 (GRCm39)	T129A	possibly damaging	Het
Itgb5	T	A	16: 33,740,335 (GRCm39)	Y482N	probably damaging	Het
Kmt5b	T	A	19: 3,865,587 (GRCm39)	*884R	probably null	Het
L3mbtl1	A	T	2: 162,812,228 (GRCm39)	T758S	possibly damaging	Het
Mindy1	A	T	3: 95,202,176 (GRCm39)	H351L	probably benign	Het
Mmel1	A	T	4: 154,977,285 (GRCm39)	I552F	probably damaging	Het
Mos	T	C	4: 3,871,186 (GRCm39)	D210G	probably benign	Het
Npl	A	C	1: 153,421,030 (GRCm39)	I16S	possibly damaging	Het
Nutm2	C	A	13: 50,629,017 (GRCm39)	P694T	possibly damaging	Het
Or1e1c	G	A	11: 73,265,811 (GRCm39)	V82I	probably damaging	Het
Or52ae7	A	G	7: 103,119,157 (GRCm39)		probably benign	Het
Plekhg4	T	C	8: 106,102,923 (GRCm39)	F261L	probably benign	Het
Ppfia3	T	A	7: 45,005,999 (GRCm39)	N331I	probably benign	Het
Ppp1r12a	T	A	10: 108,096,747 (GRCm39)	S712R	possibly damaging	Het
Psg20	T	A	7: 18,416,508 (GRCm39)	K203*	probably null	Het
Recql	C	T	6: 142,305,646 (GRCm39)	R234Q		Het
Rerg	A	G	6: 137,033,252 (GRCm39)	F160S	probably damaging	Het
Rp1l1	A	G	14: 64,269,126 (GRCm39)	K1571E	probably damaging	Het
Rsrc1	T	A	3: 67,257,328 (GRCm39)	S247T	probably damaging	Het
Sacs	T	A	14: 61,450,881 (GRCm39)	I4309N	possibly damaging	Het
Setd7	A	T	3: 51,450,111 (GRCm39)	I105N	possibly damaging	Het
Sgk1	AAGA	AAGAGA	10: 21,868,290 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,921,236 (GRCm39)	H645L	probably damaging	Het
Slain1	A	T	14: 103,925,621 (GRCm39)	D323V	probably damaging	Het
Slc25a10	A	G	11: 120,386,312 (GRCm39)	N139D	probably damaging	Het
Slc9a9	T	G	9: 94,552,235 (GRCm39)	F41V	probably damaging	Het
Spag9	A	C	11: 93,988,568 (GRCm39)	E879D	probably damaging	Het
Tdrd7	T	A	4: 46,025,946 (GRCm39)	L922Q	probably damaging	Het
Tiprl	A	G	1: 165,050,147 (GRCm39)	F156S	probably damaging	Het
Tmem185b	G	C	1: 119,454,748 (GRCm39)	V170L	probably damaging	Het
Top2a	G	A	11: 98,887,683 (GRCm39)	T1275I	probably benign	Het
Tpp1	A	G	7: 105,398,104 (GRCm39)	L353P	probably damaging	Het
Twnk	T	A	19: 44,998,622 (GRCm39)	H513Q	probably damaging	Het
Ubr5	C	T	15: 37,978,271 (GRCm39)	V2467I		Het
Vmn2r16	T	A	5: 109,511,677 (GRCm39)	I628N	probably damaging	Het
Zan	T	C	5: 137,462,776 (GRCm39)	E801G	unknown	Het
Zfp810	T	C	9: 22,189,799 (GRCm39)	R370G	possibly damaging	Het
Zfp955a	A	G	17: 33,461,587 (GRCm39)	S182P	probably benign	Het

Other mutations in Znrf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Znrf3	APN	11	5,239,039 (GRCm39)	missense	probably damaging	1.00
IGL01387:Znrf3	APN	11	5,288,656 (GRCm39)	nonsense	probably null
IGL02895:Znrf3	APN	11	5,239,085 (GRCm39)	missense	probably damaging	0.97
R0788:Znrf3	UTSW	11	5,231,320 (GRCm39)	missense	probably benign	0.04
R1383:Znrf3	UTSW	11	5,231,994 (GRCm39)	missense	probably damaging	0.96
R1544:Znrf3	UTSW	11	5,239,066 (GRCm39)	missense	probably damaging	1.00
R1556:Znrf3	UTSW	11	5,231,347 (GRCm39)	missense	probably benign	0.01
R1586:Znrf3	UTSW	11	5,231,477 (GRCm39)	missense	probably damaging	1.00
R1852:Znrf3	UTSW	11	5,237,455 (GRCm39)	missense	possibly damaging	0.94
R1864:Znrf3	UTSW	11	5,233,373 (GRCm39)	missense	possibly damaging	0.95
R1927:Znrf3	UTSW	11	5,231,062 (GRCm39)	missense	probably benign	0.28
R2353:Znrf3	UTSW	11	5,231,170 (GRCm39)	missense	probably damaging	1.00
R2884:Znrf3	UTSW	11	5,239,693 (GRCm39)	missense	probably damaging	1.00
R2885:Znrf3	UTSW	11	5,239,693 (GRCm39)	missense	probably damaging	1.00
R4021:Znrf3	UTSW	11	5,231,278 (GRCm39)	missense	possibly damaging	0.68
R4811:Znrf3	UTSW	11	5,237,420 (GRCm39)	missense	probably benign	0.07
R4935:Znrf3	UTSW	11	5,233,422 (GRCm39)	missense	probably damaging	1.00
R5218:Znrf3	UTSW	11	5,231,519 (GRCm39)	missense	possibly damaging	0.95
R5584:Znrf3	UTSW	11	5,236,218 (GRCm39)	missense	probably damaging	1.00
R5698:Znrf3	UTSW	11	5,239,006 (GRCm39)	intron	probably benign
R5715:Znrf3	UTSW	11	5,236,239 (GRCm39)	missense	possibly damaging	0.91
R5900:Znrf3	UTSW	11	5,232,110 (GRCm39)	missense	probably damaging	0.98
R5988:Znrf3	UTSW	11	5,231,776 (GRCm39)	missense	probably damaging	1.00
R6253:Znrf3	UTSW	11	5,230,865 (GRCm39)	missense	probably benign	0.14
R7057:Znrf3	UTSW	11	5,232,442 (GRCm39)	missense	probably benign	0.00
R7062:Znrf3	UTSW	11	5,231,550 (GRCm39)	missense	probably damaging	1.00
R7410:Znrf3	UTSW	11	5,238,955 (GRCm39)	missense	unknown
R7881:Znrf3	UTSW	11	5,394,533 (GRCm39)	missense	unknown
R9449:Znrf3	UTSW	11	5,288,710 (GRCm39)	nonsense	probably null
R9468:Znrf3	UTSW	11	5,288,696 (GRCm39)	missense	probably damaging	0.99
R9522:Znrf3	UTSW	11	5,232,379 (GRCm39)	missense	probably damaging	1.00
R9648:Znrf3	UTSW	11	5,231,915 (GRCm39)	missense	probably damaging	1.00
R9715:Znrf3	UTSW	11	5,232,454 (GRCm39)	missense	possibly damaging	0.93
Z1177:Znrf3	UTSW	11	5,236,168 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGGTAGTTCCCGGGACTTTCAC -3'
(R):5'- CCTCACGTGGAGCAGATGAAAG -3'

Sequencing Primer
(F):5'- CTTTCACCTGAGGGAGAAAAACGTC -3'
(R):5'- ATGGTGCTGTGAGGCGACC -3'

Posted On

2022-10-06