Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01064:Rundc3b'

51020

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 #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

8540334-8672952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8619553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 135 (M135L)

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: M135L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: M135L

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 damaging
Transcript: ENSMUST00000115378
AA Change: M135L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: M135L

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,855 (GRCm39)	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,782,388 (GRCm39)	Y924H	possibly damaging	Het
Ash1l	T	G	3: 88,979,791 (GRCm39)	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cpne6	T	C	14: 55,750,187 (GRCm39)	F106S	probably damaging	Het
Cysltr1	A	T	X: 105,622,342 (GRCm39)	I48N	probably damaging	Het
Dsg1a	A	T	18: 20,473,263 (GRCm39)	I779F	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,779 (GRCm39)	L262H	probably damaging	Het
Gart	G	A	16: 91,419,895 (GRCm39)	R871C	probably damaging	Het
Get4	C	T	5: 139,238,277 (GRCm39)	R20C	probably damaging	Het
Gm13030	G	A	4: 138,600,869 (GRCm39)		probably benign	Het
Gm17654	A	T	14: 43,816,455 (GRCm39)	H49Q	unknown	Het
Gpnmb	A	G	6: 49,032,593 (GRCm39)	I506V	probably benign	Het
Ist1	T	C	8: 110,409,243 (GRCm39)	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,583,192 (GRCm39)	D198N	probably damaging	Het
Kif5c	A	G	2: 49,584,828 (GRCm39)	I184V	possibly damaging	Het
Mink1	A	T	11: 70,494,307 (GRCm39)	M236L	probably benign	Het
Muc5ac	A	T	7: 141,361,210 (GRCm39)	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,567,083 (GRCm39)	E1326D	probably damaging	Het
Or10ak8	A	T	4: 118,774,091 (GRCm39)	M191K	possibly damaging	Het
Or51q1	A	T	7: 103,628,999 (GRCm39)	Y200F	probably benign	Het
Or5b3	T	C	19: 13,388,590 (GRCm39)	I219T	probably benign	Het
Patj	T	C	4: 98,385,210 (GRCm39)	S326P	possibly damaging	Het
Pdha2	T	C	3: 140,916,776 (GRCm39)	H244R	possibly damaging	Het
Pgap4	C	T	4: 49,586,860 (GRCm39)	V103M	possibly damaging	Het
Pkhd1	C	T	1: 20,604,754 (GRCm39)		probably benign	Het
Ptk7	A	T	17: 46,884,492 (GRCm39)	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866 (GRCm39)	G438D	probably damaging	Het
Rbm27	T	C	18: 42,452,879 (GRCm39)	V536A	possibly damaging	Het
Sorcs2	T	C	5: 36,222,696 (GRCm39)	Y353C	probably damaging	Het
Srcap	T	C	7: 127,159,064 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,771,834 (GRCm39)	H66R	probably benign	Het
Tlr7	T	A	X: 166,091,207 (GRCm39)	E93V	probably damaging	Het
Tmem156	A	G	5: 65,237,327 (GRCm39)	L76S	probably damaging	Het
Tomm70a	T	C	16: 56,972,975 (GRCm39)	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347 (GRCm39)	Y261C	possibly damaging	Het

Other mutations in Rundc3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
V7582:Rundc3b	UTSW	5	8,672,549 (GRCm39)	small deletion	probably benign

Posted On

2013-06-21