Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03065:Rnf113a1'

409649

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf113a1

Ensembl Gene

ENSMUSG00000036537

Gene Name

ring finger protein 113A1

Synonyms

2810428C21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL03065

Quality Score

Status

Chromosome

Chromosomal Location

36454898-36456120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36455748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 235 (D235G)

Ref Sequence

ENSEMBL: ENSMUSP00000042569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016571] [ENSMUST00000046433]

AlphaFold

Q8R3P8

Predicted Effect

probably benign
Transcript: ENSMUST00000016571

SMART Domains

Protein: ENSMUSP00000016571
Gene: ENSMUSG00000016427

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000046433
AA Change: D235G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042569
Gene: ENSMUSG00000036537
AA Change: D235G

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
low complexity region	37	52	N/A	INTRINSIC
ZnF_C3H1	194	221	1.8e-7	SMART
RING	260	297	1.89e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	G	8: 84,665,143 (GRCm39)	M1322V	possibly damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Afg2a	T	C	3: 37,486,328 (GRCm39)	V350A	possibly damaging	Het
Als2	T	C	1: 59,255,031 (GRCm39)	S109G	probably benign	Het
Bpifa1	T	A	2: 153,989,562 (GRCm39)	N250K	probably damaging	Het
Capn9	A	C	8: 125,332,298 (GRCm39)	Y423S	probably damaging	Het
Cd200r1	T	G	16: 44,614,645 (GRCm39)	V308G	probably benign	Het
Cic	T	C	7: 24,985,246 (GRCm39)		probably benign	Het
Col5a1	T	A	2: 27,922,757 (GRCm39)	I275N	possibly damaging	Het
Col6a4	C	A	9: 105,918,363 (GRCm39)		probably benign	Het
Cpeb1	T	C	7: 81,086,038 (GRCm39)	R35G	probably benign	Het
Cul1	A	G	6: 47,472,015 (GRCm39)	Y52C	probably damaging	Het
Dctn1	T	C	6: 83,169,475 (GRCm39)	F496L	probably damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Eaf2	C	T	16: 36,648,484 (GRCm39)	R12H	probably benign	Het
Gcc1	T	A	6: 28,418,401 (GRCm39)	Q644L	possibly damaging	Het
Gm44865	C	T	7: 108,165,004 (GRCm39)		probably benign	Het
Golgb1	C	T	16: 36,733,228 (GRCm39)	S825L	probably benign	Het
Gstp3	C	T	19: 4,108,730 (GRCm39)		probably null	Het
Heph	T	A	X: 95,571,173 (GRCm39)	I669N	probably benign	Het
Il12rb1	A	T	8: 71,273,202 (GRCm39)	Y635F	possibly damaging	Het
Ing3	G	A	6: 21,971,221 (GRCm39)	A331T	probably benign	Het
Ipo8	T	A	6: 148,686,205 (GRCm39)	I762F	probably benign	Het
Itpr3	G	A	17: 27,310,907 (GRCm39)	R510Q	probably damaging	Het
Kif16b	A	G	2: 142,461,833 (GRCm39)	Y1273H	probably damaging	Het
Map3k14	T	C	11: 103,115,927 (GRCm39)	E784G	probably damaging	Het
Mpdz	A	T	4: 81,210,802 (GRCm39)	N1694K	probably damaging	Het
Myh13	T	C	11: 67,235,679 (GRCm39)	F648S	probably damaging	Het
Myh4	A	G	11: 67,149,982 (GRCm39)	H1847R	probably benign	Het
Ncoa7	T	A	10: 30,523,993 (GRCm39)	D840V	probably damaging	Het
Nxpe2	T	A	9: 48,230,992 (GRCm39)	N459I	possibly damaging	Het
Or4d10c	C	A	19: 12,065,975 (GRCm39)	L60F	possibly damaging	Het
Or4k2	C	A	14: 50,424,465 (GRCm39)	D70Y	probably damaging	Het
Or4k47	T	C	2: 111,451,535 (GRCm39)	K295E	probably damaging	Het
Ovgp1	T	C	3: 105,893,682 (GRCm39)	F485S	probably benign	Het
Parp4	G	T	14: 56,875,326 (GRCm39)	A1182S	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pla2g15	G	A	8: 106,886,851 (GRCm39)	R114H	probably benign	Het
Plppr3	T	A	10: 79,701,880 (GRCm39)	T321S	probably benign	Het
Rsrp1	A	G	4: 134,651,700 (GRCm39)	T155A	possibly damaging	Het
Simc1	G	T	13: 54,685,025 (GRCm39)	C87F	probably damaging	Het
Slco1a5	A	G	6: 142,194,569 (GRCm39)		probably benign	Het
Slco1a8	C	A	6: 141,938,228 (GRCm39)	L230F	probably damaging	Het
Smyd5	A	G	6: 85,419,146 (GRCm39)	D276G	possibly damaging	Het
Tmem132c	A	G	5: 127,640,688 (GRCm39)	Y953C	probably damaging	Het
Trank1	T	A	9: 111,219,361 (GRCm39)	S2033T	possibly damaging	Het
Trim69	A	G	2: 122,009,115 (GRCm39)	T392A	probably damaging	Het
Tsks	T	C	7: 44,592,724 (GRCm39)	V6A	probably damaging	Het
Yjefn3	A	G	8: 70,342,206 (GRCm39)		probably benign	Het
Zfp263	T	G	16: 3,564,344 (GRCm39)	D211E	probably benign	Het
Zfp994	A	T	17: 22,421,661 (GRCm39)	F51L	probably damaging	Het
Znfx1	A	T	2: 166,897,685 (GRCm39)	M413K	probably benign	Het

Other mutations in Rnf113a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1551:Rnf113a1	UTSW	X	36,455,046 (GRCm39)	start codon destroyed	probably null	0.99
R2860:Rnf113a1	UTSW	X	36,455,736 (GRCm39)	missense	probably damaging	0.99
R2861:Rnf113a1	UTSW	X	36,455,736 (GRCm39)	missense	probably damaging	0.99
R2862:Rnf113a1	UTSW	X	36,455,736 (GRCm39)	missense	probably damaging	0.99
R6799:Rnf113a1	UTSW	X	36,455,840 (GRCm39)	missense	probably benign	0.00
R6800:Rnf113a1	UTSW	X	36,455,840 (GRCm39)	missense	probably benign	0.00
X0024:Rnf113a1	UTSW	X	36,455,704 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02