Mutagenetix > Incidental Mutation

Incidental Mutation 'R1350:AI661453'

159550

Institutional Source

Beutler Lab

Gene Symbol

AI661453

Ensembl Gene

ENSMUSG00000034382

Gene Name

expressed sequence AI661453

Synonyms

MMRRC Submission

039415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1350 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47747564-47781563 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 47778853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 860 (Q860*)

Ref Sequence

ENSEMBL: ENSMUSP00000120133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000150819]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037701

SMART Domains

Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	157	180	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000150819
AA Change: Q860*

SMART Domains

Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: Q860*

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	157	237	N/A	INTRINSIC
low complexity region	294	312	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	354	364	N/A	INTRINSIC
low complexity region	384	423	N/A	INTRINSIC
low complexity region	429	444	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	612	627	N/A	INTRINSIC
internal_repeat_1	628	654	6.24e-9	PROSPERO
low complexity region	656	671	N/A	INTRINSIC
internal_repeat_1	688	714	6.24e-9	PROSPERO
low complexity region	853	863	N/A	INTRINSIC
low complexity region	976	1016	N/A	INTRINSIC
low complexity region	1147	1154	N/A	INTRINSIC

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	A	G	4: 126,400,925 (GRCm39)	V640A	probably benign	Het
Atp10d	A	G	5: 72,418,469 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,205,950 (GRCm39)		probably null	Het
Bivm	T	A	1: 44,165,863 (GRCm39)	N104K	possibly damaging	Het
Capn15	A	G	17: 26,183,666 (GRCm39)	S338P	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccn6	C	T	10: 39,034,302 (GRCm39)	C100Y	probably damaging	Het
Col13a1	G	A	10: 61,729,848 (GRCm39)		probably benign	Het
Crb2	A	G	2: 37,682,081 (GRCm39)	N821D	probably damaging	Het
D5Ertd579e	T	A	5: 36,771,081 (GRCm39)	I1105F	probably damaging	Het
Dnaja2	A	T	8: 86,266,717 (GRCm39)	F337I	probably damaging	Het
Dntt	C	T	19: 41,025,578 (GRCm39)		probably benign	Het
Dock3	C	T	9: 106,791,831 (GRCm39)	E1381K	possibly damaging	Het
Fibp	T	C	19: 5,511,419 (GRCm39)	Y96H	probably damaging	Het
Garnl3	A	G	2: 32,942,226 (GRCm39)	V85A	probably damaging	Het
Gsdme	A	T	6: 50,223,108 (GRCm39)		probably null	Het
Gucy2c	A	T	6: 136,720,912 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,809,217 (GRCm39)	V1748A	probably benign	Het
Hepacam2	G	A	6: 3,467,530 (GRCm39)	Q384*	probably null	Het
Itga10	T	A	3: 96,564,793 (GRCm39)	M961K	probably benign	Het
Kcnk1	C	T	8: 126,751,967 (GRCm39)	T191I	probably benign	Het
Khdrbs1	G	A	4: 129,614,545 (GRCm39)	P336L	probably benign	Het
Klhdc2	T	A	12: 69,352,484 (GRCm39)		probably null	Het
Lipc	T	C	9: 70,705,649 (GRCm39)	H478R	probably benign	Het
Lrp12	A	T	15: 39,741,646 (GRCm39)	C356*	probably null	Het
Nf1	T	A	11: 79,303,513 (GRCm39)	C397S	probably damaging	Het
Nox3	A	G	17: 3,700,396 (GRCm39)	F439S	probably damaging	Het
Or12e9	T	A	2: 87,202,701 (GRCm39)	V275E	probably benign	Het
Or13a18	T	C	7: 140,190,622 (GRCm39)	V181A	probably damaging	Het
Or3a1b	T	C	11: 74,013,039 (GRCm39)	L308P	possibly damaging	Het
Or4b12	A	T	2: 90,096,690 (GRCm39)	L28Q	probably damaging	Het
Or51b17	A	G	7: 103,542,937 (GRCm39)	W2R	probably benign	Het
Or7g29	T	G	9: 19,286,710 (GRCm39)	S156R	possibly damaging	Het
Or8b37	G	A	9: 37,959,111 (GRCm39)	V198I	probably benign	Het
Pcif1	T	C	2: 164,728,687 (GRCm39)	F288L	probably damaging	Het
Prxl2b	C	A	4: 154,982,585 (GRCm39)	R107L	probably damaging	Het
Skint7	G	T	4: 111,837,521 (GRCm39)	A100S	possibly damaging	Het
Ssu2	A	T	6: 112,351,807 (GRCm39)	L306*	probably null	Het
Tasp1	T	C	2: 139,899,341 (GRCm39)	E4G	probably damaging	Het
Tfb1m	A	T	17: 3,595,955 (GRCm39)	D99E	probably benign	Het
Ube3b	A	G	5: 114,544,198 (GRCm39)		probably null	Het
Uox	A	G	3: 146,330,330 (GRCm39)	D162G	probably damaging	Het
Usp18	A	G	6: 121,239,651 (GRCm39)	T249A	possibly damaging	Het
Vmn1r202	T	C	13: 22,685,886 (GRCm39)	N177S	probably benign	Het
Vwa2	T	A	19: 56,897,558 (GRCm39)	M621K	probably damaging	Het
Wdfy3	C	A	5: 102,046,418 (GRCm39)	D1797Y	probably damaging	Het
Ylpm1	A	T	12: 85,060,856 (GRCm39)		probably benign	Het
Zbtb9	G	A	17: 27,193,380 (GRCm39)	V262I	probably benign	Het

Other mutations in AI661453

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:AI661453	APN	17	47,777,548 (GRCm39)	intron	probably benign
IGL01995:AI661453	APN	17	47,779,442 (GRCm39)	intron	probably benign
IGL02171:AI661453	APN	17	47,777,921 (GRCm39)	intron	probably benign
IGL02411:AI661453	APN	17	47,778,263 (GRCm39)	intron	probably benign
IGL02422:AI661453	APN	17	47,778,017 (GRCm39)	intron	probably benign
IGL02609:AI661453	APN	17	47,779,297 (GRCm39)	intron	probably benign
IGL02888:AI661453	APN	17	47,778,329 (GRCm39)	intron	probably benign
IGL03024:AI661453	APN	17	47,757,513 (GRCm39)	missense	probably damaging	1.00
R0077:AI661453	UTSW	17	47,780,287 (GRCm39)	intron	probably benign
R0092:AI661453	UTSW	17	47,778,440 (GRCm39)	intron	probably benign
R0144:AI661453	UTSW	17	47,780,224 (GRCm39)	intron	probably benign
R0330:AI661453	UTSW	17	47,757,571 (GRCm39)	missense	probably damaging	1.00
R0590:AI661453	UTSW	17	47,777,999 (GRCm39)	intron	probably benign
R0839:AI661453	UTSW	17	47,747,752 (GRCm39)	missense	probably null	0.97
R1436:AI661453	UTSW	17	47,777,627 (GRCm39)	intron	probably benign
R1439:AI661453	UTSW	17	47,777,587 (GRCm39)	intron	probably benign
R1643:AI661453	UTSW	17	47,778,791 (GRCm39)	intron	probably benign
R1994:AI661453	UTSW	17	47,777,959 (GRCm39)	intron	probably benign
R2145:AI661453	UTSW	17	47,777,023 (GRCm39)	intron	probably benign
R2986:AI661453	UTSW	17	47,777,697 (GRCm39)	nonsense	probably null
R4398:AI661453	UTSW	17	47,779,042 (GRCm39)	intron	probably benign
R4809:AI661453	UTSW	17	47,778,112 (GRCm39)	intron	probably benign
R4913:AI661453	UTSW	17	47,779,480 (GRCm39)	nonsense	probably null
R4972:AI661453	UTSW	17	47,777,324 (GRCm39)	intron	probably benign
R6430:AI661453	UTSW	17	47,777,722 (GRCm39)	intron	probably benign
R6687:AI661453	UTSW	17	47,777,927 (GRCm39)	intron	probably benign
R7494:AI661453	UTSW	17	47,779,105 (GRCm39)	missense	unknown
R7598:AI661453	UTSW	17	47,777,045 (GRCm39)	missense	unknown
R7635:AI661453	UTSW	17	47,778,676 (GRCm39)	missense	unknown
R7753:AI661453	UTSW	17	47,778,439 (GRCm39)	nonsense	probably null
R7920:AI661453	UTSW	17	47,779,331 (GRCm39)	missense	unknown
R7974:AI661453	UTSW	17	47,777,006 (GRCm39)	missense	unknown
R8022:AI661453	UTSW	17	47,777,161 (GRCm39)	missense	unknown
R8489:AI661453	UTSW	17	47,777,254 (GRCm39)	intron	probably benign
R8771:AI661453	UTSW	17	47,777,683 (GRCm39)	missense	unknown
R9316:AI661453	UTSW	17	47,747,832 (GRCm39)	missense	probably benign	0.05
R9596:AI661453	UTSW	17	47,780,411 (GRCm39)	missense	unknown
R9743:AI661453	UTSW	17	47,780,240 (GRCm39)	missense	unknown
R9766:AI661453	UTSW	17	47,757,570 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGAGGCACCATTTCTCTACAGACCC -3'
(R):5'- AGGCTCAGGATCGTTGCTGAACTC -3'

Sequencing Primer
(F):5'- TGTAGTGACTCCCACTCGG -3'
(R):5'- AGATGGGAGTCCTCTGTCTCAC -3'

Posted On

2014-03-14