Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03243:BC034090'

414323

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: 0.060) question?

Stock #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

155088217-155120190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155101401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 288 (P288S)

Ref Sequence

ENSEMBL: ENSMUSP00000037456 (fasta)

Gene Model

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

AlphaFold

A0A087WP46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035914
AA Change: P288S

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: P288S

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: P650S

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: P650S

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 benign
Transcript: ENSMUST00000187096

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,733 (GRCm39)	T586A	probably benign	Het
Agtr1b	T	C	3: 20,369,959 (GRCm39)	T216A	probably benign	Het
Ankdd1a	T	C	9: 65,408,752 (GRCm39)	R505G	probably benign	Het
Anxa3	A	T	5: 96,976,551 (GRCm39)		probably benign	Het
Atp6v1c2	C	T	12: 17,339,122 (GRCm39)	V210I	probably benign	Het
Catsper2	T	C	2: 121,237,300 (GRCm39)	H200R	probably benign	Het
Ceacam23	A	T	7: 17,652,574 (GRCm39)		noncoding transcript	Het
Cntnap5c	G	T	17: 58,409,171 (GRCm39)	A470S	probably benign	Het
Fcho2	G	A	13: 98,913,892 (GRCm39)		probably benign	Het
Frem1	A	C	4: 82,932,206 (GRCm39)	L165R	probably damaging	Het
Gpn1	G	A	5: 31,668,175 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,242,301 (GRCm39)	N181S	probably benign	Het
Heatr5b	A	T	17: 79,070,509 (GRCm39)		probably benign	Het
Kat6a	A	G	8: 23,400,238 (GRCm39)	N333S	possibly damaging	Het
Lrp5	T	C	19: 3,680,159 (GRCm39)	T442A	probably benign	Het
Myo15a	G	T	11: 60,387,344 (GRCm39)	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,064,457 (GRCm39)	D957A	probably damaging	Het
Nup58	T	A	14: 60,459,065 (GRCm39)	T521S	probably benign	Het
Or7e165	T	G	9: 19,694,564 (GRCm39)	I45S	probably damaging	Het
Plek	C	A	11: 16,945,319 (GRCm39)	V4L	possibly damaging	Het
Sell	T	A	1: 163,892,911 (GRCm39)	H42Q	possibly damaging	Het
Slfn8	A	T	11: 82,894,533 (GRCm39)	I702K	probably damaging	Het
Svep1	T	C	4: 58,133,387 (GRCm39)	I573V	probably benign	Het
Tgm1	T	A	14: 55,943,364 (GRCm39)	I526F	probably damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Tox	T	C	4: 6,697,597 (GRCm39)	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 53,007,555 (GRCm39)		probably benign	Het
Unc13d	A	T	11: 115,958,670 (GRCm39)	V784D	probably benign	Het
Vmn2r68	A	G	7: 84,882,963 (GRCm39)	V263A	possibly damaging	Het
Zfp385c	A	T	11: 100,525,573 (GRCm39)	V56D	probably damaging	Het
Znrf2	A	T	6: 54,861,754 (GRCm39)	I222L	possibly 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
IGL03290:BC034090	APN	1	155,101,856 (GRCm39)	missense	probably damaging	1.00
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