Mutagenetix > Incidental Mutation

Incidental Mutation 'R7206:Rnf10'

560613

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

MMRRC Submission

045284-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.628) question?

Stock #

R7206 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

115379829-115410980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 115382180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 675 (D675A)

Ref Sequence

ENSEMBL: ENSMUSP00000107726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040555] [ENSMUST00000081497] [ENSMUST00000112096] [ENSMUST00000112097] [ENSMUST00000135455]

AlphaFold

Q3UIW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040555
AA Change: D674A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: D674A

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
RING	225	266	1.98e-8	SMART
low complexity region	379	400	N/A	INTRINSIC
low complexity region	439	461	N/A	INTRINSIC
low complexity region	591	618	N/A	INTRINSIC
low complexity region	660	671	N/A	INTRINSIC
low complexity region	781	792	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081497

SMART Domains

Protein: ENSMUSP00000080215
Gene: ENSMUSG00000060152

Domain	Start	End	E-Value	Type
Pfam:RNase_P_Rpp14	7	115	2.8e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112096
AA Change: D674A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: D674A

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
RING	225	266	1.98e-8	SMART
low complexity region	379	400	N/A	INTRINSIC
low complexity region	439	461	N/A	INTRINSIC
low complexity region	591	618	N/A	INTRINSIC
low complexity region	660	671	N/A	INTRINSIC
low complexity region	782	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112097
AA Change: D675A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: D675A

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
RING	225	266	1.98e-8	SMART
low complexity region	379	400	N/A	INTRINSIC
low complexity region	440	462	N/A	INTRINSIC
low complexity region	592	619	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135455

SMART Domains

Protein: ENSMUSP00000118408
Gene: ENSMUSG00000060152

Domain	Start	End	E-Value	Type
Pfam:RNase_P_Rpp14	7	117	3.7e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139853

SMART Domains

Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740

Domain	Start	End	E-Value	Type
low complexity region	41	53	N/A	INTRINSIC
low complexity region	63	77	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
RING	188	229	1.98e-8	SMART
low complexity region	342	363	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	554	581	N/A	INTRINSIC
low complexity region	623	634	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: The protein encoding this gene is a member of the really interesting new gene finger protein family. Members of this family contain protein motifs similar to zinc finger domains and are involved in many processes that include transcriptional regulation, DNA repair and signal transduction. Expression of this gene is upregulated during neuronal differentiation of cultured cells, and inhibition of its expression impairs differentiation and cell cycle exit, providing evidence for a function in neuronal differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	G	A	3: 59,932,662 (GRCm39)	M392I	probably benign	Het
Aadacl4fm2	T	A	4: 144,285,211 (GRCm39)	D142V	probably damaging	Het
Acr	T	C	15: 89,458,374 (GRCm39)	S352P	probably benign	Het
Adam6a	T	C	12: 113,509,654 (GRCm39)	C676R	probably damaging	Het
Adgra3	T	C	5: 50,164,238 (GRCm39)	D247G	probably damaging	Het
Agxt2	A	T	15: 10,377,542 (GRCm39)	E147D	probably damaging	Het
Atp2a1	T	C	7: 126,047,144 (GRCm39)	T805A	probably benign	Het
Atp8b4	T	C	2: 126,300,212 (GRCm39)	S106G	probably damaging	Het
Ccdc170	T	A	10: 4,464,120 (GRCm39)	M87K	possibly damaging	Het
Ccnl2	T	G	4: 155,905,431 (GRCm39)	V287G	possibly damaging	Het
Ccr6	A	T	17: 8,475,781 (GRCm39)	M329L	probably benign	Het
Cflar	G	T	1: 58,780,150 (GRCm39)	M248I		Het
Cib4	A	T	5: 30,703,110 (GRCm39)	L5*	probably null	Het
Col27a1	A	T	4: 63,153,583 (GRCm39)	Y645F	probably benign	Het
Cxcr2	A	G	1: 74,198,213 (GRCm39)	T236A	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,737,792 (GRCm39)	L47*	probably null	Het
Dnajb6	A	C	5: 29,986,335 (GRCm39)	K301T	possibly damaging	Het
Dpf2	T	A	19: 5,954,571 (GRCm39)	I157F	possibly damaging	Het
Drd4	G	A	7: 140,872,032 (GRCm39)	G28R	probably damaging	Het
Dus3l	A	T	17: 57,074,807 (GRCm39)	I310F	probably damaging	Het
Dusp29	A	G	14: 21,727,102 (GRCm39)	V182A	probably damaging	Het
Eef1akmt3	A	G	10: 126,876,862 (GRCm39)	L95P	probably damaging	Het
Fabp7	C	T	10: 57,661,087 (GRCm39)		probably benign	Het
Fam135a	T	C	1: 24,069,354 (GRCm39)	N505S	probably benign	Het
Fam216b	C	A	14: 78,322,567 (GRCm39)	D46Y	probably damaging	Het
Gata6	C	T	18: 11,054,850 (GRCm39)	R260C	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,734,111 (GRCm39)	I1160M	probably benign	Het
Hjv	A	T	3: 96,435,444 (GRCm39)	D234V	probably damaging	Het
Kiss1	A	G	1: 133,255,063 (GRCm39)	K26E	probably benign	Het
Knl1	T	A	2: 118,899,780 (GRCm39)	F494I	probably benign	Het
Ktn1	T	C	14: 47,932,985 (GRCm39)	L713S	probably damaging	Het
Loxhd1	A	G	18: 77,529,513 (GRCm39)	D2052G	probably damaging	Het
Lpo	A	C	11: 87,698,249 (GRCm39)	L582R	probably damaging	Het
Map2k3	A	G	11: 60,834,406 (GRCm39)	T125A		Het
Matn3	T	A	12: 9,011,170 (GRCm39)	N360K	probably benign	Het
Mlip	A	T	9: 77,072,144 (GRCm39)	V237E	probably damaging	Het
Mms22l	T	C	4: 24,591,146 (GRCm39)	V999A	probably benign	Het
Mn1	A	G	5: 111,568,378 (GRCm39)	K783E	possibly damaging	Het
Myo1h	A	T	5: 114,457,836 (GRCm39)	K132*	probably null	Het
Nle1	A	G	11: 82,795,757 (GRCm39)	V230A	probably benign	Het
Or1ak2	T	A	2: 36,827,784 (GRCm39)	Y218N	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,647 (GRCm39)	I44F	probably benign	Het
Or4a68	T	C	2: 89,270,801 (GRCm39)		probably benign	Het
Or4f62	T	G	2: 111,986,804 (GRCm39)	C169W	probably damaging	Het
Or51f23	T	C	7: 102,452,891 (GRCm39)	S69P	probably damaging	Het
Or7e169	C	T	9: 19,757,856 (GRCm39)	D20N	probably damaging	Het
Ormdl2	T	A	10: 128,656,284 (GRCm39)	H7L	possibly damaging	Het
Pam	A	G	1: 97,823,757 (GRCm39)	S225P	probably damaging	Het
Pan2	C	A	10: 128,150,414 (GRCm39)	Y719*	probably null	Het
Ppfia4	T	C	1: 134,255,127 (GRCm39)	S243G	probably benign	Het
Ppig	T	G	2: 69,571,910 (GRCm39)	S210A	unknown	Het
Ppwd1	A	T	13: 104,350,106 (GRCm39)	N426K	probably damaging	Het
Prxl2a	T	A	14: 40,726,142 (GRCm39)	M12L	probably benign	Het
Rrp12	A	T	19: 41,866,478 (GRCm39)	L619H	probably damaging	Het
Rsph10b	C	T	5: 143,898,010 (GRCm39)	T497I	possibly damaging	Het
Scnm1	A	T	3: 95,041,205 (GRCm39)	M1K	probably null	Het
Scp2	G	T	4: 107,931,638 (GRCm39)	D332E	probably benign	Het
Senp3	T	C	11: 69,569,557 (GRCm39)	I314V	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc44a2	T	C	9: 21,258,103 (GRCm39)	F451S	probably damaging	Het
Slfn1	A	T	11: 83,012,837 (GRCm39)	M318L	probably benign	Het
Syne2	C	T	12: 76,051,531 (GRCm39)	S4087L	probably benign	Het
Syt7	A	G	19: 10,395,337 (GRCm39)	Y49C	probably damaging	Het
Tas2r134	T	C	2: 51,518,120 (GRCm39)	Y200H	probably benign	Het
Tgfbr1	A	T	4: 47,402,941 (GRCm39)	H315L	probably damaging	Het
Tmem184c	A	G	8: 78,323,206 (GRCm39)	V552A	possibly damaging	Het
Tnxb	A	G	17: 34,923,075 (GRCm39)	R2553G	possibly damaging	Het
Tomm40	C	G	7: 19,444,861 (GRCm39)	R173S	probably benign	Het
Tonsl	T	C	15: 76,517,851 (GRCm39)	D650G	probably damaging	Het
Tpo	G	C	12: 30,153,133 (GRCm39)	S407W	possibly damaging	Het
Trank1	T	C	9: 111,174,583 (GRCm39)		probably null	Het
Trp53tg5	T	C	2: 164,313,378 (GRCm39)	E99G	probably damaging	Het
Tubb2a	C	A	13: 34,259,505 (GRCm39)	S95I	possibly damaging	Het
Vav2	C	A	2: 27,226,731 (GRCm39)	R114L	probably benign	Het
Vmn1r172	A	T	7: 23,359,582 (GRCm39)	I156L	possibly damaging	Het
Vmn1r238	A	G	18: 3,122,623 (GRCm39)	Y264H	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,727 (GRCm39)	M397K	probably benign	Het
Vmn2r73	T	C	7: 85,522,075 (GRCm39)	N88S	probably benign	Het
Vps13a	T	C	19: 16,731,662 (GRCm39)	N150S	probably damaging	Het
Vps35	A	T	8: 86,014,350 (GRCm39)	Y100N	probably damaging	Het
Vps8	A	C	16: 21,276,171 (GRCm39)	I235L	probably damaging	Het
Yipf2	T	A	9: 21,501,657 (GRCm39)	H157L	probably damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp503	G	T	14: 22,035,553 (GRCm39)	S454R	possibly damaging	Het
Zfp619	C	T	7: 39,184,824 (GRCm39)	R285C	probably benign	Het

Other mutations in Rnf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Rnf10	APN	5	115,395,042 (GRCm39)	missense	probably damaging	1.00
IGL01995:Rnf10	APN	5	115,389,161 (GRCm39)	nonsense	probably null
IGL02291:Rnf10	APN	5	115,398,255 (GRCm39)	missense	probably damaging	1.00
IGL02751:Rnf10	APN	5	115,380,725 (GRCm39)	missense	probably benign	0.20
IGL02897:Rnf10	APN	5	115,386,700 (GRCm39)	missense	probably benign
IGL02968:Rnf10	APN	5	115,383,947 (GRCm39)	missense	probably benign	0.05
IGL03008:Rnf10	APN	5	115,389,355 (GRCm39)	missense	possibly damaging	0.92
IGL03098:Rnf10	UTSW	5	115,410,426 (GRCm39)	missense	probably damaging	1.00
R0409:Rnf10	UTSW	5	115,393,506 (GRCm39)	splice site	probably benign
R1083:Rnf10	UTSW	5	115,398,163 (GRCm39)	splice site	probably benign
R1754:Rnf10	UTSW	5	115,383,924 (GRCm39)	missense	probably damaging	0.99
R1957:Rnf10	UTSW	5	115,398,381 (GRCm39)	splice site	probably benign
R2398:Rnf10	UTSW	5	115,385,332 (GRCm39)	missense	probably benign	0.33
R2848:Rnf10	UTSW	5	115,387,171 (GRCm39)	missense	probably benign
R2849:Rnf10	UTSW	5	115,387,171 (GRCm39)	missense	probably benign
R4527:Rnf10	UTSW	5	115,398,210 (GRCm39)	missense	probably damaging	0.96
R4617:Rnf10	UTSW	5	115,386,762 (GRCm39)	missense	probably damaging	1.00
R4673:Rnf10	UTSW	5	115,389,148 (GRCm39)	missense	probably damaging	0.99
R4823:Rnf10	UTSW	5	115,393,501 (GRCm39)	critical splice acceptor site	probably null
R5560:Rnf10	UTSW	5	115,388,057 (GRCm39)	missense	probably damaging	1.00
R5805:Rnf10	UTSW	5	115,382,127 (GRCm39)	missense	probably benign
R6192:Rnf10	UTSW	5	115,395,136 (GRCm39)	missense	probably damaging	1.00
R7061:Rnf10	UTSW	5	115,395,149 (GRCm39)	missense	probably damaging	0.98
R7213:Rnf10	UTSW	5	115,380,533 (GRCm39)	missense	probably damaging	1.00
R7213:Rnf10	UTSW	5	115,380,532 (GRCm39)	missense	probably damaging	1.00
R7429:Rnf10	UTSW	5	115,386,739 (GRCm39)	missense	probably damaging	1.00
R8098:Rnf10	UTSW	5	115,389,438 (GRCm39)	missense	probably damaging	0.98
R8179:Rnf10	UTSW	5	115,398,176 (GRCm39)	frame shift	probably null
R8252:Rnf10	UTSW	5	115,398,373 (GRCm39)	missense	probably benign	0.03
R8357:Rnf10	UTSW	5	115,410,320 (GRCm39)	missense	possibly damaging	0.54
R8457:Rnf10	UTSW	5	115,410,320 (GRCm39)	missense	possibly damaging	0.54
R9160:Rnf10	UTSW	5	115,398,249 (GRCm39)	missense	probably benign	0.06
R9274:Rnf10	UTSW	5	115,385,322 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCACAGCTGCACTAGGTTCC -3'
(R):5'- CGTTCACTGGTGTAGGCAATG -3'

Sequencing Primer
(F):5'- TGCACTAGGTTCCCAGACAG -3'
(R):5'- ATGGCAGTTATCCATGCCTG -3'

Posted On

2019-06-26