Mutagenetix > Incidental Mutation

Incidental Mutation 'R0656:Rundc3b'

226137

Institutional Source

Beutler Lab

Gene Symbol

Rundc3b

Ensembl Gene

ENSMUSG00000040570

Gene Name

RUN domain containing 3B

Synonyms

LOC242819

MMRRC Submission

038841-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.605) question?

Stock #

R0656 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

8540334-8672952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8619529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 143 (I143F)

Ref Sequence

ENSEMBL: ENSMUSP00000111036 (fasta)

Gene Model

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

AlphaFold

Q6PDC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000047485
AA Change: I143F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: I143F

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: I143F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: I143F

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

Meta Mutation Damage Score

0.2015

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (92/94)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	A	10: 70,704,630 (GRCm39)		noncoding transcript	Het
Alox5	A	G	6: 116,400,291 (GRCm39)		probably benign	Het
Anxa11	T	A	14: 25,874,421 (GRCm39)	D203E	probably damaging	Het
Atp12a	A	T	14: 56,611,938 (GRCm39)	N371Y	probably damaging	Het
Bloc1s6	A	G	2: 122,584,543 (GRCm39)	I39M	probably benign	Het
Celsr3	A	C	9: 108,711,854 (GRCm39)	I1688L	possibly damaging	Het
Cgn	T	C	3: 94,682,204 (GRCm39)		probably benign	Het
Chd4	A	T	6: 125,079,930 (GRCm39)	I453F	probably damaging	Het
Dbnl	A	G	11: 5,747,321 (GRCm39)	T247A	probably benign	Het
Dpysl3	T	C	18: 43,571,136 (GRCm39)	E46G	possibly damaging	Het
Dsg1a	T	C	18: 20,468,949 (GRCm39)		probably benign	Het
Fbp1	C	T	13: 63,019,099 (GRCm39)	E150K	probably benign	Het
Flnb	T	A	14: 7,927,352 (GRCm38)	L1854Q	probably damaging	Het
Gcn1	C	T	5: 115,727,362 (GRCm39)	T714M	probably benign	Het
Gm12216	A	T	11: 53,704,162 (GRCm39)		probably benign	Het
Gpr82	T	C	X: 13,531,829 (GRCm39)	S126P	probably benign	Het
Hmbs	T	A	9: 44,248,657 (GRCm39)	H256L	probably benign	Het
Ibsp	A	T	5: 104,457,886 (GRCm39)		probably null	Het
Ints13	A	G	6: 146,453,959 (GRCm39)	V240A	probably benign	Het
Iqca1l	C	T	5: 24,754,760 (GRCm39)	V337M	possibly damaging	Het
Kalrn	T	C	16: 33,852,837 (GRCm39)	D343G	probably damaging	Het
Kin	T	C	2: 10,090,531 (GRCm39)		probably benign	Het
Klhdc1	T	C	12: 69,304,804 (GRCm39)	V192A	probably benign	Het
Lpar3	T	A	3: 145,946,426 (GRCm39)	C35S	possibly damaging	Het
Lrrtm4	A	G	6: 79,998,953 (GRCm39)	I122V	possibly damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mgat4c	T	C	10: 102,224,452 (GRCm39)	M222T	probably damaging	Het
Muc4	C	A	16: 32,570,488 (GRCm39)	S516Y	possibly damaging	Het
Myo1e	A	T	9: 70,274,956 (GRCm39)	Q703L	probably damaging	Het
Neb	A	G	2: 52,115,570 (GRCm39)		probably benign	Het
Necab3	T	G	2: 154,388,223 (GRCm39)	E239A	probably null	Het
Npr1	G	T	3: 90,368,676 (GRCm39)	N461K	probably benign	Het
Or4k44	T	C	2: 111,367,972 (GRCm39)	I221V	probably damaging	Het
Pcdhb2	A	G	18: 37,428,543 (GRCm39)	Y172C	probably damaging	Het
Pcdhb7	A	G	18: 37,474,954 (GRCm39)	D30G	probably benign	Het
Phf12	A	C	11: 77,920,158 (GRCm39)	Q898P	probably benign	Het
Plekhn1	T	C	4: 156,309,821 (GRCm39)	E132G	possibly damaging	Het
Ptpn3	A	G	4: 57,270,075 (GRCm39)	V29A	probably benign	Het
Ryr3	T	G	2: 112,478,651 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,626,901 (GRCm39)		probably null	Het
Slc4a2	A	G	5: 24,636,257 (GRCm39)	D201G	probably benign	Het
Tecpr1	T	A	5: 144,150,871 (GRCm39)		probably null	Het
Timm21	T	C	18: 84,967,326 (GRCm39)	H150R	probably damaging	Het
Tmem79	T	C	3: 88,240,241 (GRCm39)	T236A	probably damaging	Het
Usp34	G	T	11: 23,422,967 (GRCm39)	V3095F	probably damaging	Het
Vmn1r8	A	T	6: 57,013,573 (GRCm39)	Q208L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCACTGACAGACTGATACTCAGAACGA -3'
(R):5'- AACGTCCTCTTCGGGTATGAGTAGAAT -3'

Sequencing Primer
(F):5'- CTGATACTCAGAACGAGTCAATG -3'
(R):5'- CATGTTGCCTTTGGATATTAAAGAAG -3'

Posted On

2014-09-17