Mutagenetix > Incidental Mutation

Incidental Mutation 'V7582:Rundc3b'

152601

Institutional Source

Beutler Lab

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 #

V7582 () of strain stinger

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

8540334-8672952 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TGCCGCCGCCGCCGCCGCCGCCGCCGC to TGCCGCCGCCGCCGCCGCCGCCGC at 8672549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111036 (fasta)

Gene Model

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

AlphaFold

Q6PDC0

Predicted Effect

probably benign
Transcript: ENSMUST00000047485

SMART Domains

Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570

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

probably benign
Transcript: ENSMUST00000115378

SMART Domains

Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570

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

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Med20	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	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
IGL03394:Rundc3b	APN	5	8,598,261 (GRCm39)	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- CGCACAGGGATTTGGGGACATC -3'
(R):5'- TGCCATCGTTGAGAGAAGGCCG -3'

Sequencing Primer
(F):5'- GGATTTGGGGACATCTCAGTAACTAC -3'
(R):5'- AGAGAAGGCCGGGGGAC -3'

Posted On

2014-01-29