Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03276:Bicc1'

415426

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bicc1

Ensembl Gene

ENSMUSG00000014329

Gene Name

BicC family RNA binding protein 1

Synonyms

Bic-C, jcpk

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03276

Quality Score

Status

Chromosome

Chromosomal Location

70758662-70995530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70789268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 381 (D381G)

Ref Sequence

ENSEMBL: ENSMUSP00000123201 (fasta)

Gene Model

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

AlphaFold

Q99MQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014473
AA Change: D381G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: D381G

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: D299G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: D299G

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: D381G

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: D381G

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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef25	A	C	10: 127,021,794 (GRCm39)	F202V	possibly damaging	Het
Atrnl1	A	T	19: 57,641,359 (GRCm39)	N336Y	probably damaging	Het
Cabin1	A	T	10: 75,568,247 (GRCm39)	L912Q	probably damaging	Het
Fam83e	A	G	7: 45,372,884 (GRCm39)	D165G	possibly damaging	Het
Foxn1	T	A	11: 78,261,950 (GRCm39)	T140S	probably benign	Het
Ggt1	A	G	10: 75,416,331 (GRCm39)		probably benign	Het
Kctd8	A	T	5: 69,497,929 (GRCm39)	M239K	possibly damaging	Het
Kdm4d	A	T	9: 14,375,838 (GRCm39)	C7S	probably benign	Het
Kdm5a	T	A	6: 120,379,669 (GRCm39)		probably benign	Het
Klrb1b	T	C	6: 128,792,168 (GRCm39)	N191S	probably benign	Het
Krt35	C	T	11: 99,983,953 (GRCm39)	S349N	probably benign	Het
Krt75	A	T	15: 101,476,811 (GRCm39)	D359E	probably damaging	Het
Lipo5	T	C	19: 33,445,242 (GRCm39)	D109G	unknown	Het
Lsm12	T	G	11: 102,073,770 (GRCm39)	I58L	probably benign	Het
Mxd4	T	C	5: 34,335,088 (GRCm39)	D99G	probably benign	Het
Nlrp4a	T	A	7: 26,163,615 (GRCm39)	N927K	probably damaging	Het
Olfm2	A	G	9: 20,580,083 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,457,980 (GRCm39)	V4103A	possibly damaging	Het
Slc30a9	T	C	5: 67,507,260 (GRCm39)		probably benign	Het
Snap91	T	C	9: 86,707,065 (GRCm39)	T242A	possibly damaging	Het
Srp19	A	C	18: 34,464,843 (GRCm39)	T28P	probably damaging	Het
Tenm2	C	T	11: 35,963,603 (GRCm39)	V943I	possibly damaging	Het
Tgfb3	T	C	12: 86,104,642 (GRCm39)	E384G	probably damaging	Het
Tmem39a	T	A	16: 38,405,646 (GRCm39)	N74K	probably benign	Het
Tnfrsf11a	A	G	1: 105,749,215 (GRCm39)	Y211C	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
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
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

Posted On

2016-08-02