Mutagenetix > Incidental Mutation

Incidental Mutation 'R6824:Rnf180'

534069

Institutional Source

Beutler Lab

Gene Symbol

Rnf180

Ensembl Gene

ENSMUSG00000021720

Gene Name

ring finger protein 180

Synonyms

3110001E11Rik, Rines

MMRRC Submission

044936-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105267075-105431406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105318023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 463 (D463V)

Ref Sequence

ENSEMBL: ENSMUSP00000153678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069686] [ENSMUST00000224011] [ENSMUST00000224662] [ENSMUST00000226044]

AlphaFold

Q3U827

Predicted Effect

probably damaging
Transcript: ENSMUST00000069686
AA Change: D463V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064624
Gene: ENSMUSG00000021720
AA Change: D463V

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	273	289	N/A	INTRINSIC
low complexity region	378	395	N/A	INTRINSIC
RING	432	473	1.65e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224011
AA Change: D463V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224662
AA Change: D463V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226044
AA Change: D462V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.2225

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

MGI Phenotype

PHENOTYPE: Knock-out mice show impaired stress responses, enhanced anxiety, and affiliative behavior. Norepinephrine and serotonin levels are decreased in the locus ceruleus, prefrontal cortex, and amygdala and MAO-A enzyme activity is enhanced in the locus ceruleus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	A	G	6: 39,552,058 (GRCm39)	D275G	probably benign	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Chl1	A	G	6: 103,691,510 (GRCm39)	K1051E	probably damaging	Het
Chn2	A	T	6: 54,249,938 (GRCm39)	M16L	probably benign	Het
Cmas	A	G	6: 142,716,962 (GRCm39)	T285A	possibly damaging	Het
Cnga4	A	T	7: 105,056,036 (GRCm39)	M213L	probably benign	Het
Ctif	C	T	18: 75,654,782 (GRCm39)	R248Q	probably damaging	Het
Cyth3	T	C	5: 143,672,265 (GRCm39)	I60T	probably damaging	Het
Dach1	A	G	14: 98,256,328 (GRCm39)	I310T	possibly damaging	Het
Defb6	T	C	8: 19,278,099 (GRCm39)	I57T	probably benign	Het
Dnajc27	T	C	12: 4,156,897 (GRCm39)	V262A	possibly damaging	Het
Emsy	G	A	7: 98,242,614 (GRCm39)	T1175M	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fat4	T	A	3: 39,011,674 (GRCm39)	V2258E	probably benign	Het
Gm136	G	A	4: 34,746,591 (GRCm39)	T140I	probably benign	Het
Gps1	T	C	11: 120,678,254 (GRCm39)	F265S	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hnrnpul2	T	C	19: 8,804,081 (GRCm39)	V560A	possibly damaging	Het
Kmt2b	A	G	7: 30,285,701 (GRCm39)		probably benign	Het
Krt8	T	C	15: 101,906,875 (GRCm39)	N317S	possibly damaging	Het
Lad1	A	G	1: 135,755,479 (GRCm39)	T252A	probably benign	Het
Maml2	G	A	9: 13,608,513 (GRCm39)	S743N	possibly damaging	Het
Mrpl9	C	A	3: 94,350,677 (GRCm39)	P7H	possibly damaging	Het
Myb	T	A	10: 21,021,019 (GRCm39)	H470L	probably benign	Het
Nicol1	T	C	5: 34,141,069 (GRCm39)		probably benign	Het
Nr1i3	T	C	1: 171,042,542 (GRCm39)	I56T	probably benign	Het
Nrdc	A	G	4: 108,900,622 (GRCm39)	Y338C	probably damaging	Het
Or13n4	A	G	7: 106,423,664 (GRCm39)	V23A	probably benign	Het
Pcdhb20	T	A	18: 37,638,752 (GRCm39)	M426K	probably benign	Het
Pde6d	T	C	1: 86,473,485 (GRCm39)	T104A	possibly damaging	Het
Ptprz1	A	T	6: 23,002,130 (GRCm39)	T1407S	probably benign	Het
Recql5	C	T	11: 115,814,038 (GRCm39)	R369Q	possibly damaging	Het
Sart3	C	T	5: 113,882,600 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,758,760 (GRCm39)	D488G	probably benign	Het
Slc9a9	C	T	9: 95,109,251 (GRCm39)	P538S	probably damaging	Het
Snap29	A	G	16: 17,240,370 (GRCm39)	K159E	probably benign	Het
Spaca1	A	G	4: 34,049,869 (GRCm39)	V43A	probably benign	Het
Stk10	T	C	11: 32,537,363 (GRCm39)	S191P	probably damaging	Het
Tbc1d1	A	G	5: 64,414,245 (GRCm39)	H73R	probably benign	Het
Tcerg1l	A	G	7: 137,995,844 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,051,449 (GRCm39)	Y793C	probably damaging	Het
Ttll12	A	T	15: 83,475,578 (GRCm39)		probably null	Het
Vmn2r61	G	T	7: 41,949,403 (GRCm39)	V608L	probably benign	Het
Xpo4	A	T	14: 57,850,860 (GRCm39)	I348N	probably damaging	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	probably benign	Het

Other mutations in Rnf180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Rnf180	APN	13	105,386,864 (GRCm39)	missense	probably damaging	0.96
R0270:Rnf180	UTSW	13	105,388,774 (GRCm39)	missense	probably benign	0.06
R1660:Rnf180	UTSW	13	105,407,499 (GRCm39)	missense	probably benign	0.04
R3881:Rnf180	UTSW	13	105,386,915 (GRCm39)	missense	possibly damaging	0.62
R6007:Rnf180	UTSW	13	105,317,957 (GRCm39)	critical splice donor site	probably null
R6740:Rnf180	UTSW	13	105,318,014 (GRCm39)	missense	possibly damaging	0.91
R7021:Rnf180	UTSW	13	105,407,429 (GRCm39)	missense	probably benign	0.03
R7655:Rnf180	UTSW	13	105,304,096 (GRCm39)	missense	probably damaging	1.00
R7656:Rnf180	UTSW	13	105,304,096 (GRCm39)	missense	probably damaging	1.00
R8352:Rnf180	UTSW	13	105,318,056 (GRCm39)	missense	probably damaging	1.00
R8452:Rnf180	UTSW	13	105,318,056 (GRCm39)	missense	probably damaging	1.00
R9288:Rnf180	UTSW	13	105,386,781 (GRCm39)	small insertion	probably benign
R9396:Rnf180	UTSW	13	105,318,027 (GRCm39)	nonsense	probably null
R9409:Rnf180	UTSW	13	105,386,781 (GRCm39)	small insertion	probably benign
R9410:Rnf180	UTSW	13	105,386,781 (GRCm39)	small insertion	probably benign
R9636:Rnf180	UTSW	13	105,386,819 (GRCm39)	missense	possibly damaging	0.52
Z1177:Rnf180	UTSW	13	105,318,121 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTGGTTCTGGGATAGCAC -3'
(R):5'- GTGTTGCAGACCGTGAGTAATG -3'

Sequencing Primer
(F):5'- GCTTTATACACTAGAGCAGAAGTCAC -3'
(R):5'- TTGCAGACCGTGAGTAATGAGATG -3'

Posted On

2018-09-12