Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Bicc1'

212545

Institutional Source

Beutler Lab

Gene Symbol

Bicc1

Ensembl Gene

ENSMUSG00000014329

Gene Name

BicC family RNA binding protein 1

Synonyms

Bic-C, jcpk

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0485 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70758662-70995530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70761145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 955 (E955A)

Ref Sequence

ENSEMBL: ENSMUSP00000123201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]

AlphaFold

Q99MQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000014473

SMART Domains

Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329

Domain	Start	End	E-Value	Type
KH	47	129	2.69e0	SMART
KH	133	206	6.24e-18	SMART
KH	285	355	1.25e-8	SMART
low complexity region	384	402	N/A	INTRINSIC
low complexity region	447	467	N/A	INTRINSIC
low complexity region	480	499	N/A	INTRINSIC
low complexity region	700	718	N/A	INTRINSIC
low complexity region	736	747	N/A	INTRINSIC
low complexity region	794	815	N/A	INTRINSIC
SAM	872	938	2.04e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000058942

Predicted Effect

probably benign
Transcript: ENSMUST00000131445

SMART Domains

Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329

Domain	Start	End	E-Value	Type
SCOP:d1dtja_	1	46	1e-2	SMART
Blast:KH	1	47	1e-22	BLAST
KH	51	124	6.24e-18	SMART
KH	203	273	1.25e-8	SMART
low complexity region	302	320	N/A	INTRINSIC
low complexity region	365	385	N/A	INTRINSIC
low complexity region	398	417	N/A	INTRINSIC
low complexity region	618	636	N/A	INTRINSIC
low complexity region	654	665	N/A	INTRINSIC
low complexity region	712	733	N/A	INTRINSIC
SAM	790	856	2.04e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000143791
AA Change: E955A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: E955A

Domain	Start	End	E-Value	Type
KH	47	129	2.69e0	SMART
KH	133	206	6.24e-18	SMART
KH	285	355	1.25e-8	SMART
low complexity region	384	402	N/A	INTRINSIC
low complexity region	447	467	N/A	INTRINSIC
low complexity region	480	499	N/A	INTRINSIC
low complexity region	700	718	N/A	INTRINSIC
low complexity region	736	747	N/A	INTRINSIC
low complexity region	794	815	N/A	INTRINSIC
SAM	872	938	4.26e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218757

Meta Mutation Damage Score

0.1134

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Afap1	A	T	5: 36,108,347 (GRCm39)	Q231L	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,386,676 (GRCm39)	D370E	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a1	T	C	2: 27,880,109 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Or8s5	T	C	15: 98,238,810 (GRCm39)	H20R	probably benign	Het
Parn	G	C	16: 13,472,299 (GRCm39)		probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkar2b	A	G	12: 32,026,034 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,104,269 (GRCm39)	M1664V	probably damaging	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		probably benign	Het

Other mutations in Bicc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Bicc1	APN	10	70,796,987 (GRCm39)	missense	probably damaging	1.00
IGL01988:Bicc1	APN	10	70,792,006 (GRCm39)	missense	probably damaging	1.00
IGL02686:Bicc1	APN	10	70,779,190 (GRCm39)	splice site	probably benign
IGL02829:Bicc1	APN	10	70,794,710 (GRCm39)	missense	probably damaging	1.00
IGL03276:Bicc1	APN	10	70,789,268 (GRCm39)	missense	possibly damaging	0.76
IGL03354:Bicc1	APN	10	70,782,432 (GRCm39)	missense	probably benign	0.00
artemis	UTSW	10	70,863,784 (GRCm39)	missense	probably damaging	0.99
Pebbles	UTSW	10	70,783,730 (GRCm39)	missense	possibly damaging	0.95
PIT1430001:Bicc1	UTSW	10	70,793,511 (GRCm39)	missense	possibly damaging	0.94
R0095:Bicc1	UTSW	10	70,796,988 (GRCm39)	missense	probably damaging	1.00
R0142:Bicc1	UTSW	10	70,761,200 (GRCm39)	missense	probably damaging	1.00
R0184:Bicc1	UTSW	10	70,915,045 (GRCm39)	missense	probably benign
R0469:Bicc1	UTSW	10	70,915,045 (GRCm39)	missense	probably benign
R0520:Bicc1	UTSW	10	70,793,020 (GRCm39)	missense	probably damaging	0.96
R0884:Bicc1	UTSW	10	70,794,677 (GRCm39)	missense	probably damaging	1.00
R1678:Bicc1	UTSW	10	70,779,348 (GRCm39)	missense	probably damaging	1.00
R1892:Bicc1	UTSW	10	70,794,614 (GRCm39)	missense	probably damaging	1.00
R1943:Bicc1	UTSW	10	70,995,353 (GRCm39)	missense	probably damaging	1.00
R2220:Bicc1	UTSW	10	70,785,955 (GRCm39)	missense	probably damaging	1.00
R2240:Bicc1	UTSW	10	70,782,633 (GRCm39)	critical splice donor site	probably null
R2519:Bicc1	UTSW	10	70,766,474 (GRCm39)	missense	probably damaging	1.00
R4362:Bicc1	UTSW	10	70,779,204 (GRCm39)	frame shift	probably null
R4363:Bicc1	UTSW	10	70,779,204 (GRCm39)	frame shift	probably null
R4419:Bicc1	UTSW	10	70,782,804 (GRCm39)	missense	possibly damaging	0.73
R4697:Bicc1	UTSW	10	70,789,314 (GRCm39)	missense	possibly damaging	0.87
R4728:Bicc1	UTSW	10	70,771,661 (GRCm39)	critical splice donor site	probably null
R4765:Bicc1	UTSW	10	70,776,423 (GRCm39)	missense	probably damaging	1.00
R4838:Bicc1	UTSW	10	70,781,146 (GRCm39)	missense	possibly damaging	0.50
R5022:Bicc1	UTSW	10	70,783,713 (GRCm39)	missense	possibly damaging	0.79
R5023:Bicc1	UTSW	10	70,783,713 (GRCm39)	missense	possibly damaging	0.79
R5057:Bicc1	UTSW	10	70,783,713 (GRCm39)	missense	possibly damaging	0.79
R5082:Bicc1	UTSW	10	70,776,352 (GRCm39)	missense	probably benign	0.05
R5160:Bicc1	UTSW	10	70,768,066 (GRCm39)	missense	probably damaging	1.00
R5294:Bicc1	UTSW	10	70,783,730 (GRCm39)	missense	possibly damaging	0.95
R5639:Bicc1	UTSW	10	70,776,350 (GRCm39)	missense	probably damaging	1.00
R5749:Bicc1	UTSW	10	70,782,799 (GRCm39)	missense	probably benign	0.00
R6045:Bicc1	UTSW	10	70,792,911 (GRCm39)	nonsense	probably null
R6128:Bicc1	UTSW	10	70,776,313 (GRCm39)	splice site	probably null
R6277:Bicc1	UTSW	10	70,863,731 (GRCm39)	missense	possibly damaging	0.74
R6389:Bicc1	UTSW	10	70,794,752 (GRCm39)	missense	probably damaging	1.00
R7021:Bicc1	UTSW	10	70,796,978 (GRCm39)	missense	probably damaging	0.99
R7101:Bicc1	UTSW	10	70,766,483 (GRCm39)	missense	probably damaging	1.00
R7351:Bicc1	UTSW	10	70,783,730 (GRCm39)	missense	probably benign	0.18
R7352:Bicc1	UTSW	10	70,783,730 (GRCm39)	missense	probably benign	0.18
R7353:Bicc1	UTSW	10	70,783,730 (GRCm39)	missense	probably benign	0.18
R7366:Bicc1	UTSW	10	70,779,216 (GRCm39)	missense	probably benign	0.01
R7480:Bicc1	UTSW	10	70,779,306 (GRCm39)	missense	probably damaging	1.00
R7541:Bicc1	UTSW	10	70,782,434 (GRCm39)	missense	possibly damaging	0.82
R7544:Bicc1	UTSW	10	70,792,204 (GRCm39)	missense	possibly damaging	0.89
R7555:Bicc1	UTSW	10	70,792,121 (GRCm39)	missense	possibly damaging	0.75
R7663:Bicc1	UTSW	10	70,782,420 (GRCm39)	missense	probably benign
R7671:Bicc1	UTSW	10	70,792,997 (GRCm39)	missense	probably benign	0.01
R7747:Bicc1	UTSW	10	70,782,823 (GRCm39)	missense	probably benign
R8129:Bicc1	UTSW	10	70,915,033 (GRCm39)	missense	probably benign	0.01
R8270:Bicc1	UTSW	10	70,767,938 (GRCm39)	missense	probably damaging	0.99
R8525:Bicc1	UTSW	10	70,779,365 (GRCm39)	missense	possibly damaging	0.67
R8762:Bicc1	UTSW	10	70,779,216 (GRCm39)	missense	probably benign	0.03
R8849:Bicc1	UTSW	10	70,782,694 (GRCm39)	missense	probably benign	0.23
R9120:Bicc1	UTSW	10	70,776,862 (GRCm39)	missense	probably damaging	1.00
R9164:Bicc1	UTSW	10	70,781,094 (GRCm39)	missense	probably damaging	1.00
R9368:Bicc1	UTSW	10	70,785,917 (GRCm39)	missense	probably benign	0.13
R9452:Bicc1	UTSW	10	70,792,981 (GRCm39)	missense	probably damaging	0.99
R9497:Bicc1	UTSW	10	70,776,828 (GRCm39)	critical splice donor site	probably null
R9641:Bicc1	UTSW	10	70,863,772 (GRCm39)	missense	probably benign	0.01
R9672:Bicc1	UTSW	10	70,794,666 (GRCm39)	missense	probably damaging	1.00
RF013:Bicc1	UTSW	10	70,771,660 (GRCm39)	critical splice donor site	probably null
X0028:Bicc1	UTSW	10	70,781,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGTCCTGATACCAGACACTCCG -3'
(R):5'- AACAAACACCATTTGCCCTGGTTTC -3'

Sequencing Primer
(F):5'- GACACTCCGAGTGCCAAG -3'
(R):5'- AGTAACTAGAATGTCTACCTTCTGCC -3'

Posted On

2014-07-09