Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03394:Rundc3b'

421176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rundc3b

Ensembl Gene

ENSMUSG00000040570

Gene Name

RUN domain containing 3B

Synonyms

LOC242819

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.605) question?

Stock #

IGL03394

Quality Score

Status

Chromosome

Chromosomal Location

8540334-8672952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8598261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

Ref Sequence

ENSEMBL: ENSMUSP00000111036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047485] [ENSMUST00000115378]

AlphaFold

Q6PDC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047485
AA Change: T203A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: T203A

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
RUN	126	188	3.28e-23	SMART
low complexity region	209	221	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115378
AA Change: T203A

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: T203A

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
RUN	126	188	3.28e-23	SMART
low complexity region	209	221	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,635,277 (GRCm39)	L242P	probably damaging	Het
Adam22	T	C	5: 8,217,379 (GRCm39)	I139V	probably benign	Het
Ahr	G	T	12: 35,553,751 (GRCm39)	Y789*	probably null	Het
Ankrd27	C	A	7: 35,306,523 (GRCm39)		probably null	Het
Ano1	T	C	7: 144,149,176 (GRCm39)		probably null	Het
Ap4e1	T	A	2: 126,905,317 (GRCm39)	M996K	probably benign	Het
Bglap	T	C	3: 88,291,312 (GRCm39)	K42E	probably benign	Het
Ccdc30	A	T	4: 119,216,779 (GRCm39)	S220R	probably damaging	Het
Clic5	A	G	17: 44,548,105 (GRCm39)	N50S	probably benign	Het
Csnk2a1-ps3	A	T	1: 156,352,792 (GRCm39)	Q331L	probably benign	Het
Cyp20a1	T	G	1: 60,405,840 (GRCm39)	D211E	probably damaging	Het
Dctn1	G	A	6: 83,168,266 (GRCm39)	V408I	possibly damaging	Het
Exoc6	T	C	19: 37,588,020 (GRCm39)	I551T	probably benign	Het
Fat4	C	T	3: 38,946,168 (GRCm39)	T1687M	probably damaging	Het
Fat4	T	A	3: 39,063,513 (GRCm39)	C4490S	probably damaging	Het
Fras1	T	A	5: 96,815,336 (GRCm39)	I1351N	probably damaging	Het
Igkv2-116	T	C	6: 68,129,327 (GRCm39)		noncoding transcript	Het
Iws1	T	G	18: 32,221,301 (GRCm39)		probably benign	Het
Mlh1	A	T	9: 111,097,311 (GRCm39)	I61N	probably damaging	Het
Mtmr7	C	T	8: 41,061,972 (GRCm39)	V38M	probably damaging	Het
Myh7	G	T	14: 55,212,818 (GRCm39)	A1409D	probably damaging	Het
Myt1	A	T	2: 181,439,638 (GRCm39)	I387F	probably damaging	Het
Nars2	A	G	7: 96,689,220 (GRCm39)	N381D	possibly damaging	Het
Nsd3	T	C	8: 26,165,765 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,617,933 (GRCm39)	S162P	probably damaging	Het
Oog2	T	C	4: 143,920,576 (GRCm39)	F3S	probably benign	Het
Or8b1b	A	G	9: 38,375,517 (GRCm39)	Y60C	probably damaging	Het
Oxgr1	T	C	14: 120,260,022 (GRCm39)	M62V	possibly damaging	Het
Pcgf1	A	G	6: 83,056,121 (GRCm39)	Y75C	probably damaging	Het
Ppp3cc	C	A	14: 70,462,477 (GRCm39)	E396*	probably null	Het
Ptx4	T	A	17: 25,343,649 (GRCm39)	C300S	probably damaging	Het
Rassf4	C	T	6: 116,618,708 (GRCm39)	V192I	probably damaging	Het
Serpinb3c	T	C	1: 107,199,603 (GRCm39)	D306G	probably benign	Het
Sipa1l2	T	C	8: 126,218,398 (GRCm39)	E313G	possibly damaging	Het
Snx5	G	A	2: 144,095,674 (GRCm39)	A329V	probably damaging	Het
Stx1b	T	C	7: 127,407,056 (GRCm39)	D213G	probably damaging	Het
Tpd52l2	G	A	2: 181,156,879 (GRCm39)	V172I	probably benign	Het
Trim50	A	T	5: 135,392,807 (GRCm39)	I241F	probably damaging	Het
Ttn	G	A	2: 76,580,760 (GRCm39)	H23378Y	probably benign	Het
Vmn1r193	T	A	13: 22,403,939 (GRCm39)	M18L	probably benign	Het
Vmn1r226	A	G	17: 20,908,446 (GRCm39)	N226S	probably benign	Het
Vmn2r14	T	A	5: 109,367,702 (GRCm39)	Q430L	probably null	Het
Xirp2	T	A	2: 67,345,538 (GRCm39)	V2593D	probably damaging	Het
Zfp169	A	T	13: 48,643,400 (GRCm39)	F576I	possibly damaging	Het
Zfp667	T	C	7: 6,292,438 (GRCm39)		probably null	Het
Zzef1	A	G	11: 72,777,601 (GRCm39)		probably null	Het

Other mutations in Rundc3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Rundc3b	APN	5	8,619,553 (GRCm39)	missense	probably damaging	0.98
IGL01726:Rundc3b	APN	5	8,570,902 (GRCm39)	missense	probably benign	0.24
IGL02271:Rundc3b	APN	5	8,542,530 (GRCm39)	missense	probably damaging	1.00
F5770:Rundc3b	UTSW	5	8,672,549 (GRCm39)	small deletion	probably benign
R0656:Rundc3b	UTSW	5	8,619,529 (GRCm39)	missense	probably damaging	1.00
R1702:Rundc3b	UTSW	5	8,562,318 (GRCm39)	missense	probably benign
R1776:Rundc3b	UTSW	5	8,629,050 (GRCm39)	missense	probably damaging	1.00
R1829:Rundc3b	UTSW	5	8,629,117 (GRCm39)	missense	probably damaging	1.00
R2011:Rundc3b	UTSW	5	8,562,409 (GRCm39)	critical splice acceptor site	probably null
R3606:Rundc3b	UTSW	5	8,562,386 (GRCm39)	missense	probably damaging	1.00
R4841:Rundc3b	UTSW	5	8,578,742 (GRCm39)	missense	probably damaging	1.00
R6452:Rundc3b	UTSW	5	8,629,175 (GRCm39)	splice site	probably null
R6642:Rundc3b	UTSW	5	8,629,071 (GRCm39)	missense	probably damaging	1.00
R7022:Rundc3b	UTSW	5	8,562,348 (GRCm39)	missense	probably null	0.00
R7187:Rundc3b	UTSW	5	8,542,506 (GRCm39)	missense	probably damaging	1.00
R7310:Rundc3b	UTSW	5	8,571,011 (GRCm39)	nonsense	probably null
R7391:Rundc3b	UTSW	5	8,609,455 (GRCm39)	missense	probably benign	0.00
R8523:Rundc3b	UTSW	5	8,619,505 (GRCm39)	missense	probably damaging	0.99
R9709:Rundc3b	UTSW	5	8,570,982 (GRCm39)	missense	probably benign	0.11
R9732:Rundc3b	UTSW	5	8,562,406 (GRCm39)	missense	probably damaging	1.00
V7582:Rundc3b	UTSW	5	8,672,549 (GRCm39)	small deletion	probably benign

Posted On

2016-08-02