Mutagenetix > Incidental Mutation

Incidental Mutation 'R5340:BC034090'

422256

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

042919-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5340 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155088217-155120190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155102160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 35 (T35A)

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: T35A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: T35A

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: T397A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: T397A

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
AA Change: T35A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: T35A

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: ENSMUST00000192162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190976

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp7	T	C	4: 41,034,347 (GRCm39)	R271G	probably benign	Het
Atp4a	A	G	7: 30,420,231 (GRCm39)	I793V	probably benign	Het
Baz2a	C	T	10: 127,950,911 (GRCm39)	R535C	probably damaging	Het
Bnip1	T	C	17: 27,005,764 (GRCm39)		probably null	Het
Ccdc136	A	G	6: 29,411,859 (GRCm39)	S369G	possibly damaging	Het
Csrnp3	A	G	2: 65,852,781 (GRCm39)	D391G	probably benign	Het
Ctbp2	G	T	7: 132,615,692 (GRCm39)	H414Q	probably benign	Het
Dnah6	A	G	6: 73,189,603 (GRCm39)	I15T	probably benign	Het
Dync2li1	A	G	17: 84,957,130 (GRCm39)		probably null	Het
Eri3	A	T	4: 117,530,991 (GRCm39)	I329F	probably damaging	Het
Flii	T	A	11: 60,608,094 (GRCm39)	I786F	probably damaging	Het
Fmo1	A	T	1: 162,657,551 (GRCm39)	I530N	probably benign	Het
Gm28042	T	C	2: 119,871,929 (GRCm39)	S960P	probably benign	Het
Gzmm	C	A	10: 79,530,907 (GRCm39)	F236L	probably benign	Het
H2bl1	C	T	13: 99,120,951 (GRCm39)	R25H	possibly damaging	Het
Igkv4-55	A	G	6: 69,584,489 (GRCm39)	V41A	probably damaging	Het
Ipo9	A	G	1: 135,313,170 (GRCm39)	Y1020H	probably benign	Het
Masp1	T	C	16: 23,276,858 (GRCm39)	Y549C	probably damaging	Het
Mblac1	A	T	5: 138,192,840 (GRCm39)	S61C	probably damaging	Het
Mical1	T	A	10: 41,359,427 (GRCm39)		probably null	Het
Mroh9	C	T	1: 162,908,156 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,919,720 (GRCm39)	M1T	probably null	Het
Neb	A	G	2: 52,113,060 (GRCm39)	Y4245H	probably damaging	Het
Or11j4	T	C	14: 50,630,677 (GRCm39)	F155L	probably damaging	Het
Or4c52	T	C	2: 89,845,706 (GRCm39)	V144A	probably benign	Het
Otulinl	T	C	15: 27,658,175 (GRCm39)	M282V	possibly damaging	Het
Pak2	G	T	16: 31,853,764 (GRCm39)		probably null	Het
Phc3	A	T	3: 30,961,616 (GRCm39)	F939I	probably damaging	Het
Prss3l	T	C	6: 41,422,307 (GRCm39)	N33D	probably benign	Het
Rogdi	C	A	16: 4,831,225 (GRCm39)	R14L	probably benign	Het
Ryr3	T	C	2: 112,664,470 (GRCm39)	Y1627C	probably damaging	Het
Scrn3	A	T	2: 73,166,154 (GRCm39)	K396*	probably null	Het
Sh3pxd2a	T	C	19: 47,256,670 (GRCm39)	N683D	probably benign	Het
Smtnl1	T	A	2: 84,645,785 (GRCm39)	H362L	probably damaging	Het
Sned1	A	G	1: 93,210,479 (GRCm39)	S927G	probably benign	Het
Tcaf1	A	G	6: 42,655,923 (GRCm39)	V351A	probably damaging	Het
Tmem232	C	T	17: 65,709,993 (GRCm39)	V432M	possibly damaging	Het
Ttll11	G	T	2: 35,792,801 (GRCm39)	H347Q	probably damaging	Het
Vmn2r56	A	C	7: 12,449,799 (GRCm39)	D146E	probably damaging	Het
Wwp1	A	G	4: 19,638,773 (GRCm39)		probably null	Het
Zcchc7	T	A	4: 44,762,245 (GRCm39)	N124K	probably benign	Het
Zfp667	A	G	7: 6,308,252 (GRCm39)	T307A	possibly damaging	Het
Zfp709	T	A	8: 72,643,596 (GRCm39)	C342S	probably damaging	Het
Zfp940	A	G	7: 29,544,266 (GRCm39)	V547A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCTATTCCCTACAATGCGG -3'
(R):5'- GATTGTTGGTACCGTCAGGC -3'

Sequencing Primer
(F):5'- TTAACACTTGACGCTGGCG -3'
(R):5'- CACCATGGGAGAATGTGCC -3'

Posted On

2016-08-04