Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03290:BC034090'

415855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL03290

Quality Score

Status

Chromosome

Chromosomal Location

155088217-155120190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155101856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 136 (D136A)

Ref Sequence

ENSEMBL: ENSMUSP00000140632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156] [ENSMUST00000187096]

AlphaFold

A0A087WP46

Predicted Effect

probably damaging
Transcript: ENSMUST00000035914
AA Change: D136A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: D136A

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:DUF4685	44	168	6.6e-57	PFAM
low complexity region	486	500	N/A	INTRINSIC
low complexity region	562	568	N/A	INTRINSIC
low complexity region	640	652	N/A	INTRINSIC
PDZ	830	905	4.8e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186082

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186156
AA Change: D498A

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

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: D498A

Domain	Start	End	E-Value	Type
low complexity region	446	463	N/A	INTRINSIC
low complexity region	779	793	N/A	INTRINSIC
low complexity region	855	861	N/A	INTRINSIC
low complexity region	933	945	N/A	INTRINSIC
PDZ	1123	1198	2.2e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186551

Predicted Effect

probably damaging
Transcript: ENSMUST00000187096
AA Change: D136A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: D136A

Domain	Start	End	E-Value	Type
low complexity region	84	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190976

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,302,646 (GRCm39)		probably benign	Het
Asb18	A	G	1: 89,942,296 (GRCm39)	S2P	probably damaging	Het
Atp2b2	A	G	6: 113,770,715 (GRCm39)	F398S	probably damaging	Het
Ces5a	A	C	8: 94,246,260 (GRCm39)	F310V	probably damaging	Het
Chsy1	T	C	7: 65,820,779 (GRCm39)	V338A	probably benign	Het
Dbh	A	G	2: 27,064,944 (GRCm39)	E385G	probably damaging	Het
Dnah14	T	A	1: 181,591,543 (GRCm39)		probably benign	Het
F2rl1	A	G	13: 95,650,097 (GRCm39)	S262P	possibly damaging	Het
Fat2	T	C	11: 55,147,045 (GRCm39)	N3984D	probably benign	Het
Fbxo38	A	T	18: 62,659,234 (GRCm39)	H354Q	probably benign	Het
Fgf6	T	A	6: 127,001,095 (GRCm39)	V201D	probably damaging	Het
Gm16181	A	T	17: 35,442,933 (GRCm39)		probably benign	Het
Gm6811	T	C	17: 21,314,311 (GRCm39)		noncoding transcript	Het
Gna11	A	G	10: 81,366,771 (GRCm39)	F313S	probably damaging	Het
Gprc6a	C	T	10: 51,491,968 (GRCm39)	A523T	probably damaging	Het
Il22	T	C	10: 118,041,785 (GRCm39)		probably null	Het
Insr	T	C	8: 3,308,574 (GRCm39)	Y154C	probably damaging	Het
Irak4	T	A	15: 94,449,780 (GRCm39)	D86E	probably benign	Het
Itk	C	A	11: 46,225,764 (GRCm39)	W529L	probably damaging	Het
Klhl6	C	A	16: 19,765,887 (GRCm39)	A572S	probably benign	Het
Ldhc	C	T	7: 46,519,112 (GRCm39)	R112C	probably damaging	Het
Lrrc56	T	C	7: 140,779,685 (GRCm39)		probably benign	Het
Mdh2	A	G	5: 135,818,567 (GRCm39)	E274G	probably damaging	Het
N4bp1	G	T	8: 87,575,161 (GRCm39)	D711E	probably benign	Het
Ngly1	T	A	14: 16,281,866 (GRCm38)	I248K	probably damaging	Het
Or2ab1	A	G	11: 58,489,149 (GRCm39)	N309S	probably damaging	Het
Or7e176	T	C	9: 20,171,556 (GRCm39)	I140T	probably damaging	Het
Pbrm1	A	G	14: 30,829,241 (GRCm39)	E1421G	probably damaging	Het
Pcca	G	A	14: 122,822,518 (GRCm39)	R112H	possibly damaging	Het
Pgrmc2	T	C	3: 41,023,061 (GRCm39)		probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Pogz	A	T	3: 94,782,402 (GRCm39)		probably benign	Het
Ppp1r3a	A	G	6: 14,754,771 (GRCm39)	Y159H	probably damaging	Het
Rax	T	C	18: 66,071,231 (GRCm39)	K135E	probably damaging	Het
Rbm7	T	A	9: 48,401,267 (GRCm39)	M154L	probably benign	Het
Rp1	A	G	1: 4,420,264 (GRCm39)	S283P	probably damaging	Het
Rpusd4	T	C	9: 35,179,273 (GRCm39)	S30P	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Sfxn4	A	G	19: 60,848,508 (GRCm39)	W22R	probably damaging	Het
Sh3pxd2a	T	A	19: 47,412,955 (GRCm39)	R43W	probably damaging	Het
Smc5	A	G	19: 23,251,022 (GRCm39)	V54A	probably benign	Het
Snap47	A	G	11: 59,319,424 (GRCm39)	I238T	probably damaging	Het
Tecpr2	T	G	12: 110,934,267 (GRCm39)	I1309S	possibly damaging	Het
Trappc8	A	G	18: 20,953,992 (GRCm39)	L1310P	probably damaging	Het
Vmn2r61	T	A	7: 41,915,408 (GRCm39)	H118Q	probably benign	Het
Zbtb17	C	T	4: 141,194,244 (GRCm39)	T731I	probably damaging	Het
Zfp287	A	G	11: 62,606,062 (GRCm39)	F282L	probably damaging	Het

Other mutations in BC034090

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:BC034090	APN	1	155,101,193 (GRCm39)	missense	possibly damaging	0.95
IGL00159:BC034090	APN	1	155,101,197 (GRCm39)	nonsense	probably null
IGL00481:BC034090	APN	1	155,108,267 (GRCm39)	missense	probably benign	0.04
IGL01309:BC034090	APN	1	155,102,130 (GRCm39)	missense	probably damaging	0.98
IGL01813:BC034090	APN	1	155,102,085 (GRCm39)	nonsense	probably null
IGL01938:BC034090	APN	1	155,108,338 (GRCm39)	splice site	probably null
IGL01982:BC034090	APN	1	155,099,078 (GRCm39)	missense	probably damaging	1.00
IGL02115:BC034090	APN	1	155,108,397 (GRCm39)	intron	probably benign
IGL02338:BC034090	APN	1	155,093,217 (GRCm39)	missense	probably damaging	1.00
IGL02406:BC034090	APN	1	155,100,899 (GRCm39)	missense	probably benign	0.00
IGL03243:BC034090	APN	1	155,101,401 (GRCm39)	missense	possibly damaging	0.71
BB004:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
BB014:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
R0055:BC034090	UTSW	1	155,117,404 (GRCm39)	missense	probably damaging	1.00
R1436:BC034090	UTSW	1	155,101,662 (GRCm39)	missense	probably benign	0.04
R1649:BC034090	UTSW	1	155,101,319 (GRCm39)	missense	possibly damaging	0.72
R1710:BC034090	UTSW	1	155,101,610 (GRCm39)	missense	possibly damaging	0.82
R1819:BC034090	UTSW	1	155,101,575 (GRCm39)	missense	possibly damaging	0.58
R1969:BC034090	UTSW	1	155,100,972 (GRCm39)	missense	possibly damaging	0.90
R1996:BC034090	UTSW	1	155,097,340 (GRCm39)	unclassified	probably benign
R2012:BC034090	UTSW	1	155,097,178 (GRCm39)	missense	probably damaging	0.98
R2133:BC034090	UTSW	1	155,101,532 (GRCm39)	missense	probably benign	0.27
R3426:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3427:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3428:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3782:BC034090	UTSW	1	155,102,024 (GRCm39)	missense	probably damaging	1.00
R3792:BC034090	UTSW	1	155,117,543 (GRCm39)	missense	probably damaging	0.98
R4234:BC034090	UTSW	1	155,117,326 (GRCm39)	missense	probably benign
R4373:BC034090	UTSW	1	155,101,904 (GRCm39)	missense	probably benign	0.22
R4377:BC034090	UTSW	1	155,108,196 (GRCm39)	missense	probably benign	0.00
R4661:BC034090	UTSW	1	155,108,221 (GRCm39)	missense	probably damaging	0.98
R4676:BC034090	UTSW	1	155,102,010 (GRCm39)	missense	possibly damaging	0.60
R4729:BC034090	UTSW	1	155,100,836 (GRCm39)	missense	probably damaging	1.00
R5170:BC034090	UTSW	1	155,089,396 (GRCm39)	missense	probably damaging	1.00
R5340:BC034090	UTSW	1	155,102,160 (GRCm39)	missense	possibly damaging	0.74
R5382:BC034090	UTSW	1	155,101,349 (GRCm39)	missense	probably benign	0.09
R5384:BC034090	UTSW	1	155,117,773 (GRCm39)	missense	possibly damaging	0.68
R5576:BC034090	UTSW	1	155,117,214 (GRCm39)	missense	probably benign	0.01
R5891:BC034090	UTSW	1	155,108,793 (GRCm39)	unclassified	probably benign
R6060:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
R6092:BC034090	UTSW	1	155,100,659 (GRCm39)	missense	probably damaging	0.99
R6662:BC034090	UTSW	1	155,102,085 (GRCm39)	missense	possibly damaging	0.92
R6736:BC034090	UTSW	1	155,117,676 (GRCm39)	missense	possibly damaging	0.92
R6903:BC034090	UTSW	1	155,097,131 (GRCm39)	missense	probably benign	0.03
R6970:BC034090	UTSW	1	155,117,185 (GRCm39)	missense	probably damaging	1.00
R7144:BC034090	UTSW	1	155,117,777 (GRCm39)	missense	probably damaging	1.00
R7201:BC034090	UTSW	1	155,117,680 (GRCm39)	missense	probably damaging	0.98
R7265:BC034090	UTSW	1	155,101,073 (GRCm39)	missense	probably damaging	0.96
R7380:BC034090	UTSW	1	155,108,229 (GRCm39)	missense	probably damaging	1.00
R7436:BC034090	UTSW	1	155,102,127 (GRCm39)	missense	probably damaging	1.00
R7569:BC034090	UTSW	1	155,093,151 (GRCm39)	missense	probably benign	0.00
R7587:BC034090	UTSW	1	155,093,232 (GRCm39)	missense	probably damaging	1.00
R7664:BC034090	UTSW	1	155,117,377 (GRCm39)	missense	probably damaging	1.00
R7737:BC034090	UTSW	1	155,117,419 (GRCm39)	missense	possibly damaging	0.66
R7782:BC034090	UTSW	1	155,108,410 (GRCm39)	intron	probably benign
R7927:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
R8079:BC034090	UTSW	1	155,101,032 (GRCm39)	missense	probably damaging	1.00
R8204:BC034090	UTSW	1	155,117,488 (GRCm39)	missense	probably damaging	1.00
R8558:BC034090	UTSW	1	155,097,085 (GRCm39)	missense	possibly damaging	0.95
R8832:BC034090	UTSW	1	155,102,034 (GRCm39)	missense	probably damaging	1.00
R8858:BC034090	UTSW	1	155,101,964 (GRCm39)	missense	probably benign	0.17
R8879:BC034090	UTSW	1	155,102,103 (GRCm39)	missense	probably benign
R9004:BC034090	UTSW	1	155,102,138 (GRCm39)	missense	possibly damaging	0.87
R9036:BC034090	UTSW	1	155,117,419 (GRCm39)	missense	possibly damaging	0.66
R9141:BC034090	UTSW	1	155,108,474 (GRCm39)	intron	probably benign
R9293:BC034090	UTSW	1	155,101,518 (GRCm39)	missense	probably benign	0.29
R9348:BC034090	UTSW	1	155,099,049 (GRCm39)	missense	probably benign	0.00
R9440:BC034090	UTSW	1	155,101,961 (GRCm39)	missense	probably benign	0.06
R9477:BC034090	UTSW	1	155,102,087 (GRCm39)	missense	probably damaging	1.00
R9608:BC034090	UTSW	1	155,099,135 (GRCm39)	missense	possibly damaging	0.79
R9700:BC034090	UTSW	1	155,101,982 (GRCm39)	missense	probably damaging	1.00
R9787:BC034090	UTSW	1	155,117,955 (GRCm39)	missense	possibly damaging	0.95
X0002:BC034090	UTSW	1	155,102,025 (GRCm39)	nonsense	probably null
Z1187:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1189:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1190:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1192:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02