Mutagenetix > Incidental Mutation

Incidental Mutation 'R9700:BC034090'

729496

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9700 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155088217-155120190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155101982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 94 (R94H)

Ref Sequence

ENSEMBL: ENSMUSP00000037456 (fasta)

Gene Model

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

AlphaFold

A0A087WP46

Predicted Effect

probably damaging
Transcript: ENSMUST00000035914
AA Change: R94H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: R94H

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

probably damaging
Transcript: ENSMUST00000186156
AA Change: R456H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: R456H

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

probably damaging
Transcript: ENSMUST00000187096
AA Change: R94H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: R94H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,311,442 (GRCm39)	S1233F	probably benign	Het
Aldh1a2	G	T	9: 71,123,228 (GRCm39)	E34*	probably null	Het
Arhgap39	T	C	15: 76,611,617 (GRCm39)	T856A	probably damaging	Het
Arpin	A	G	7: 79,578,015 (GRCm39)	V138A	probably damaging	Het
Art3	T	G	5: 92,562,120 (GRCm39)	S373A	unknown	Het
AU018091	A	T	7: 3,208,165 (GRCm39)	I514N	probably benign	Het
C2cd6	T	G	1: 59,117,089 (GRCm39)	M135L	probably benign	Het
Cdc42ep2	T	C	19: 5,968,097 (GRCm39)	M203V	probably damaging	Het
Cftr	T	C	6: 18,268,359 (GRCm39)	Y803H	probably damaging	Het
Dcaf1	C	T	9: 106,735,524 (GRCm39)	T824I	probably benign	Het
Ddr1	A	T	17: 35,993,288 (GRCm39)	D906E	probably damaging	Het
Dhx8	G	A	11: 101,624,015 (GRCm39)		probably null	Het
Dpysl5	C	T	5: 30,904,417 (GRCm39)	Q88*	probably null	Het
Ercc6l2	A	G	13: 63,967,525 (GRCm39)	T42A	probably benign	Het
Faf1	A	G	4: 109,748,179 (GRCm39)	K495E	possibly damaging	Het
Hr	T	C	14: 70,804,616 (GRCm39)	V928A	probably benign	Het
Ints14	C	T	9: 64,880,007 (GRCm39)	R174*	probably null	Het
Jam3	T	C	9: 27,010,183 (GRCm39)	Y267C	probably damaging	Het
Lpin3	A	T	2: 160,740,565 (GRCm39)	N370I	probably benign	Het
Mad2l1	C	A	6: 66,512,955 (GRCm39)	N29K	probably damaging	Het
Myt1	A	G	2: 181,452,177 (GRCm39)	K838R	probably damaging	Het
Ninj2	T	C	6: 120,174,873 (GRCm39)	S15P	probably benign	Het
Or14a256	A	T	7: 86,265,618 (GRCm39)	N78K	probably benign	Het
Or1j14	T	A	2: 36,418,313 (GRCm39)	D296E	probably benign	Het
Or6b9	A	G	7: 106,555,630 (GRCm39)	V171A	probably benign	Het
Or9a2	T	A	6: 41,749,076 (GRCm39)	K52N	probably benign	Het
Osgin2	A	G	4: 16,006,455 (GRCm39)	S80P	probably damaging	Het
Pcdha5	A	G	18: 37,094,447 (GRCm39)	N319D	probably benign	Het
Phkb	A	G	8: 86,567,696 (GRCm39)	K14E	probably benign	Het
Pip5k1b	T	C	19: 24,281,460 (GRCm39)	Y518C	probably benign	Het
Polh	A	T	17: 46,510,414 (GRCm39)	M14K	probably damaging	Het
Prtg	A	G	9: 72,762,313 (GRCm39)	D480G	probably benign	Het
Ptprk	T	C	10: 28,456,495 (GRCm39)	V1099A	probably damaging	Het
Pum2	T	C	12: 8,779,044 (GRCm39)	F539L	probably damaging	Het
Rac3	A	T	11: 120,613,399 (GRCm39)	T58S	probably damaging	Het
Setd1a	A	T	7: 127,385,752 (GRCm39)	I820F	possibly damaging	Het
Six2	A	G	17: 85,994,867 (GRCm39)	F172L	probably damaging	Het
Spic	T	A	10: 88,515,757 (GRCm39)	I22F	probably benign	Het
Tex30	T	C	1: 44,130,374 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,778,411 (GRCm39)	I394T	probably benign	Het
Tnc	A	G	4: 63,933,186 (GRCm39)	F693L	probably damaging	Het
Ubr4	T	A	4: 139,119,388 (GRCm39)	V189E	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zan	T	C	5: 137,454,836 (GRCm39)	H1400R	unknown	Het
Zfp36l2	A	G	17: 84,494,184 (GRCm39)	I151T	possibly damaging	Het
Zfp809	T	C	9: 22,154,470 (GRCm39)	C396R	unknown	Het
Zfp93	G	A	7: 23,974,894 (GRCm39)	G293D	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
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
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'- TCATTGTCCCAAGGAGGTGG -3'
(R):5'- TCTCCTGTCTCTTCACTAGAAATGG -3'

Sequencing Primer
(F):5'- TCCCAAGGAGGTGGTGGTAC -3'
(R):5'- GTCTCTTCACTAGAAATGGCCAGAG -3'

Posted On

2022-10-06