Mutagenetix > Incidental Mutation

Incidental Mutation 'R7656:Rnf180'

591221

Institutional Source

Beutler Lab

Gene Symbol

Rnf180

Ensembl Gene

ENSMUSG00000021720

Gene Name

ring finger protein 180

Synonyms

3110001E11Rik, Rines

MMRRC Submission

045732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R7656 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105267075-105431406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105304096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 507 (K507E)

Ref Sequence

ENSEMBL: ENSMUSP00000064624 (fasta)

Gene Model

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

AlphaFold

Q3U827

Predicted Effect

probably damaging
Transcript: ENSMUST00000069686
AA Change: K507E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064624
Gene: ENSMUSG00000021720
AA Change: K507E

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: K507E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224662
AA Change: K507E

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226044
AA Change: K506E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1252

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	A	G	4: 56,804,218 (GRCm39)	I78V	probably benign	Het
Acot2	A	G	12: 84,039,691 (GRCm39)	Y400C	probably benign	Het
Agbl1	A	G	7: 76,059,080 (GRCm39)	M237V		Het
Atrnl1	C	A	19: 57,599,811 (GRCm39)	S9*	probably null	Het
BC031181	A	T	18: 75,142,406 (GRCm39)	K71*	probably null	Het
Bmal2	A	G	6: 146,707,940 (GRCm39)	T21A	probably benign	Het
Brpf1	A	T	6: 113,291,835 (GRCm39)	M294L	probably benign	Het
Camk2g	T	G	14: 20,789,410 (GRCm39)	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,025,748 (GRCm39)	R94W	probably damaging	Het
Cd244a	T	A	1: 171,404,823 (GRCm39)	L225Q	probably damaging	Het
Chsy1	G	T	7: 65,820,778 (GRCm39)	V338F	probably damaging	Het
Col14a1	A	G	15: 55,225,846 (GRCm39)	I170V	unknown	Het
Col6a2	G	T	10: 76,443,590 (GRCm39)	Q492K	probably benign	Het
Dnah12	G	T	14: 26,581,273 (GRCm39)	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,535,164 (GRCm39)	S2699G	possibly damaging	Het
Efhc1	A	G	1: 21,031,281 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,807,886 (GRCm39)	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,660,493 (GRCm39)	A127T	probably benign	Het
Glp1r	T	C	17: 31,149,572 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,276,253 (GRCm39)	M1637L	probably benign	Het
Grm5	T	G	7: 87,779,459 (GRCm39)	D998E	probably benign	Het
Krtcap3	A	G	5: 31,409,904 (GRCm39)	T157A	probably damaging	Het
Ltf	A	T	9: 110,853,462 (GRCm39)	K18*	probably null	Het
Luc7l2	A	G	6: 38,580,399 (GRCm39)	R333G	unknown	Het
Mdc1	T	G	17: 36,161,773 (GRCm39)	S895R	probably benign	Het
Mef2a	G	A	7: 66,945,142 (GRCm39)	T80M	probably damaging	Het
Mitd1	T	A	1: 37,924,356 (GRCm39)	I65F	probably benign	Het
Mms19	A	G	19: 41,933,011 (GRCm39)	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,472,922 (GRCm39)	V629L	unknown	Het
Ncapd3	T	A	9: 26,966,801 (GRCm39)	I545N	possibly damaging	Het
Nin	G	A	12: 70,089,542 (GRCm39)	T1291M		Het
Or10z1	T	A	1: 174,077,784 (GRCm39)	K236N	probably damaging	Het
Or5b123	A	T	19: 13,597,197 (GRCm39)	I181F	probably damaging	Het
Orc3	G	T	4: 34,587,032 (GRCm39)	C352*	probably null	Het
Oxct2b	G	A	4: 123,011,550 (GRCm39)	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Phkg2	G	A	7: 127,182,074 (GRCm39)	G365D	probably damaging	Het
Pira1	T	C	7: 3,742,281 (GRCm39)	E82G	probably damaging	Het
Plekhd1	A	G	12: 80,768,934 (GRCm39)		probably null	Het
Ppp2r3d	A	T	9: 101,088,911 (GRCm39)	F471I	probably benign	Het
Prl3d1	T	C	13: 27,284,018 (GRCm39)	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,633,552 (GRCm39)	F14L	probably benign	Het
Prox1	A	G	1: 189,894,418 (GRCm39)	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,688,849 (GRCm39)	F881I	probably benign	Het
Rab3ip	A	G	10: 116,750,044 (GRCm39)	I363T	probably benign	Het
Rapgef3	T	C	15: 97,659,090 (GRCm39)	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,585,279 (GRCm39)	P1559L	probably benign	Het
Rpl3l	T	C	17: 24,949,960 (GRCm39)	I53T	probably benign	Het
Rtl1	T	C	12: 109,557,442 (GRCm39)	I1466V	unknown	Het
Saxo2	A	G	7: 82,284,559 (GRCm39)	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,500,724 (GRCm39)	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,690,982 (GRCm39)	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,152,682 (GRCm39)	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,887,389 (GRCm39)	H98P	possibly damaging	Het
Spata31e3	T	G	13: 50,401,122 (GRCm39)	K401N	probably benign	Het
T2	T	A	17: 8,637,047 (GRCm39)	C337*	probably null	Het
Tbc1d19	A	G	5: 54,054,377 (GRCm39)	Y455C	probably damaging	Het
Thbd	A	G	2: 148,249,340 (GRCm39)	L176P	probably damaging	Het
Tmem116	A	G	5: 121,590,252 (GRCm39)		probably null	Het
Tmem25	C	T	9: 44,709,640 (GRCm39)	V54I	possibly damaging	Het
Trpm4	C	T	7: 44,971,233 (GRCm39)	V378I	probably benign	Het
Trrap	G	T	5: 144,779,422 (GRCm39)	W3129C	probably damaging	Het
Ttn	A	T	2: 76,558,660 (GRCm39)	D29740E	probably damaging	Het
Vcan	C	T	13: 89,833,233 (GRCm39)	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,560,189 (GRCm39)	D388E	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
R6824:Rnf180	UTSW	13	105,318,023 (GRCm39)	missense	probably damaging	1.00
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
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'- ATTCCCGAAAGTGACTGATGTAGAG -3'
(R):5'- TTCCAAAGCTGCTGCAAATAGG -3'

Sequencing Primer
(F):5'- GACTGGCATTTCTGACTAGGAAGC -3'
(R):5'- ATAGGAATTTGGGTGACATATTAGGG -3'

Posted On

2019-11-12