Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Bicc1'

389265

Institutional Source

Beutler Lab

Gene Symbol

Bicc1

Ensembl Gene

ENSMUSG00000014329

Gene Name

BicC family RNA binding protein 1

Synonyms

Bic-C, jcpk

MMRRC Submission

042613-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70758662-70995530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70783713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 393 (S393P)

Ref Sequence

ENSEMBL: ENSMUSP00000119137 (fasta)

Gene Model

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

AlphaFold

Q99MQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014473
AA Change: S475P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: S475P

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

possibly damaging
Transcript: ENSMUST00000131445
AA Change: S393P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: S393P

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

possibly damaging
Transcript: ENSMUST00000143791
AA Change: S475P

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: S475P

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: ENSMUST00000144740

Meta Mutation Damage Score

0.1165

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570 (GRCm39)		probably null	Het
Abca15	T	C	7: 119,945,319 (GRCm39)	I465T	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcb4	T	A	5: 8,959,054 (GRCm39)		probably null	Het
Acan	T	C	7: 78,742,556 (GRCm39)		probably null	Het
Aebp2	G	A	6: 140,583,456 (GRCm39)	R109Q	possibly damaging	Het
Agfg2	A	T	5: 137,658,422 (GRCm39)		probably null	Het
Ankib1	T	A	5: 3,784,011 (GRCm39)	I322F	possibly damaging	Het
AW551984	A	T	9: 39,509,261 (GRCm39)	N293K	probably benign	Het
BC028528	T	A	3: 95,796,135 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,999,327 (GRCm39)	Y4656C	probably damaging	Het
Bmp3	A	G	5: 99,020,683 (GRCm39)	R369G	probably damaging	Het
C1d	T	A	11: 17,216,674 (GRCm39)	N135K	probably benign	Het
Ccdc148	G	A	2: 58,717,644 (GRCm39)	A453V	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Celf2	C	T	2: 6,612,658 (GRCm39)		probably benign	Het
Chga	T	C	12: 102,529,096 (GRCm39)	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Crim1	T	C	17: 78,587,558 (GRCm39)	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,059,553 (GRCm39)	S116T	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dmxl1	T	A	18: 50,028,194 (GRCm39)	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,250,940 (GRCm39)	L355Q	probably damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Exd2	T	A	12: 80,543,564 (GRCm39)	N582K	probably damaging	Het
Fbln1	G	A	15: 85,121,827 (GRCm39)	S316N	probably damaging	Het
Fchsd1	A	G	18: 38,097,863 (GRCm39)	I340T	possibly damaging	Het
Fn1	T	C	1: 71,663,338 (GRCm39)	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,809,773 (GRCm39)	I2031V	probably benign	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,876,432 (GRCm39)		noncoding transcript	Het
Gm1818	G	C	12: 48,602,318 (GRCm39)		noncoding transcript	Het
Gm5420	A	T	10: 21,567,626 (GRCm39)		noncoding transcript	Het
Gm7104	A	T	12: 88,252,529 (GRCm39)		noncoding transcript	Het
Gp2	A	G	7: 119,048,337 (GRCm39)	I427T	probably damaging	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpr142	A	C	11: 114,695,214 (GRCm39)	S60R	probably benign	Het
Helz2	T	C	2: 180,882,362 (GRCm39)	R144G	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hnf4g	G	T	3: 3,709,647 (GRCm39)	A144S	probably damaging	Het
Irs2	A	C	8: 11,037,012 (GRCm39)	*1322G	probably null	Het
Keg1	A	G	19: 12,696,521 (GRCm39)	N288S	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Klhl1	G	A	14: 96,374,142 (GRCm39)	P635S	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,835,666 (GRCm39)	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630 (GRCm39)	Y215*	probably null	Het
Mdga2	C	T	12: 66,517,534 (GRCm39)	C100Y	possibly damaging	Het
Mthfd1	T	G	12: 76,341,148 (GRCm39)	V480G	probably damaging	Het
Mthfd1	T	A	12: 76,348,102 (GRCm39)	M582K	probably damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,745,418 (GRCm39)	Y239H	probably damaging	Het
Nat8	G	A	6: 85,807,839 (GRCm39)	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Nexmif	A	T	X: 103,130,956 (GRCm39)	N320K	probably damaging	Het
Or10h1	T	C	17: 33,418,751 (GRCm39)	F239S	probably damaging	Het
Or2m12	A	T	16: 19,104,809 (GRCm39)	V228D	probably damaging	Het
Or2r3	A	T	6: 42,448,221 (GRCm39)	V297E	possibly damaging	Het
Or4c111	A	G	2: 88,844,387 (GRCm39)	V7A	probably damaging	Het
Or4c122	C	T	2: 89,079,761 (GRCm39)	M92I	probably benign	Het
Or4k15	T	C	14: 50,364,469 (GRCm39)	V145A	possibly damaging	Het
Or52e2	G	A	7: 102,804,942 (GRCm39)	P4L	probably benign	Het
Or6c69c	T	C	10: 129,910,462 (GRCm39)	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,583,223 (GRCm39)	N776K	probably benign	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Plk4	G	A	3: 40,756,512 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,688,126 (GRCm39)	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 35,067,582 (GRCm39)		probably benign	Het
Ptpn21	G	A	12: 98,645,666 (GRCm39)	R1091C	probably damaging	Het
Pwwp2b	C	T	7: 138,835,494 (GRCm39)	P312S	possibly damaging	Het
Rad21	A	T	15: 51,830,102 (GRCm39)	I503K	probably benign	Het
Rai14	A	G	15: 10,574,592 (GRCm39)	S789P	probably damaging	Het
Rbm26	C	T	14: 105,381,688 (GRCm39)	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016 (GRCm39)		probably benign	Het
Ros1	A	G	10: 52,000,171 (GRCm39)	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,634,923 (GRCm39)	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,617,971 (GRCm39)	W281R	probably damaging	Het
Slc8a3	A	G	12: 81,246,332 (GRCm39)	V900A	probably damaging	Het
Spats2l	G	T	1: 57,918,715 (GRCm39)	V30L	probably damaging	Het
Spg21	A	G	9: 65,383,231 (GRCm39)	D139G	probably damaging	Het
Sun3	T	C	11: 8,988,314 (GRCm39)	T3A	probably damaging	Het
Tep1	A	G	14: 51,066,456 (GRCm39)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Timd5	T	A	11: 46,419,359 (GRCm39)	D58E	probably damaging	Het
Timm21	C	A	18: 84,967,539 (GRCm39)	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,572,409 (GRCm39)	N386K	probably benign	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trgv1	T	A	13: 19,524,401 (GRCm39)	S42T	probably benign	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ucp2	A	T	7: 100,147,579 (GRCm39)	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 20,746,245 (GRCm39)	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,831,649 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,676 (GRCm39)	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,060,367 (GRCm39)	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,222,417 (GRCm39)	L601P	probably damaging	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Wap	T	C	11: 6,587,339 (GRCm39)		probably benign	Het
Wdr11	A	G	7: 129,226,435 (GRCm39)	I744M	probably benign	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Zfp524	A	T	7: 5,021,416 (GRCm39)	I315F	probably benign	Het
Zfp62	T	A	11: 49,106,556 (GRCm39)	S216T	probably damaging	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	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
R0485:Bicc1	UTSW	10	70,761,145 (GRCm39)	missense	probably damaging	0.96
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
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'- TAGGGCTAGAGGATGCAGTC -3'
(R):5'- TCGAATGTGACAGATTAGAAAGCAC -3'

Sequencing Primer
(F):5'- CACTTGAAGAAATGGGATCCCTTG -3'
(R):5'- AGCACCAGGTTCTATCGATG -3'

Posted On

2016-06-06