Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:AI661453'

597402

Institutional Source

Beutler Lab

Gene Symbol

AI661453

Ensembl Gene

ENSMUSG00000034382

Gene Name

expressed sequence AI661453

Synonyms

MMRRC Submission

045809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47436615-47470638 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 47467514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 722 (E722*)

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: E722*

SMART Domains

Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: E722*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,184,107 (GRCm38)	T1377A	probably damaging	Het
Ap2b1	A	T	11: 83,367,907 (GRCm38)	K735*	probably null	Het
Aqp4	T	C	18: 15,399,976 (GRCm38)	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,752,458 (GRCm38)	V117L	probably benign	Het
C1rb	A	G	6: 124,580,431 (GRCm38)	N509S	probably benign	Het
Cep44	A	G	8: 56,532,807 (GRCm38)	V350A	probably benign	Het
Cmya5	T	C	13: 93,098,172 (GRCm38)	Q136R	probably benign	Het
Cntrl	T	C	2: 35,111,679 (GRCm38)	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,556,963 (GRCm38)	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,493,664 (GRCm38)	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,751,193 (GRCm38)	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,171,436 (GRCm38)	D294G	probably benign	Het
Ddx10	A	T	9: 53,225,604 (GRCm38)	L336Q	probably damaging	Het
Dop1a	A	G	9: 86,489,702 (GRCm38)	T149A	possibly damaging	Het
Epg5	A	G	18: 77,948,345 (GRCm38)	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,178,317 (GRCm38)	Q60L	probably damaging	Het
Farsb	T	A	1: 78,480,103 (GRCm38)	E41D	probably benign	Het
Frem1	T	C	4: 82,913,980 (GRCm38)	D1956G	probably benign	Het
Fzd4	T	A	7: 89,407,784 (GRCm38)	Y346*	probably null	Het
Fzd7	A	T	1: 59,483,482 (GRCm38)	S175C	probably benign	Het
Gdi2	A	G	13: 3,548,956 (GRCm38)	T47A	probably benign	Het
Gpr155	A	T	2: 73,382,206 (GRCm38)	H24Q	probably benign	Het
Hdac7	G	T	15: 97,806,488 (GRCm38)	N515K	probably benign	Het
Hdac7	A	T	15: 97,800,761 (GRCm38)	N638K	possibly damaging	Het
Hnrnpul2	T	C	19: 8,824,972 (GRCm38)	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,451,260 (GRCm38)	R223*	probably null	Het
Igkv4-91	T	G	6: 68,768,777 (GRCm38)	S46R	probably benign	Het
Itk	T	A	11: 46,331,895 (GRCm38)	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,396,761 (GRCm38)	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 142,175,399 (GRCm38)		probably benign	Het
Lce1m	C	A	3: 93,018,508 (GRCm38)	G41W	unknown	Het
Mapk10	T	A	5: 103,038,553 (GRCm38)	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,461,653 (GRCm38)	E812G	probably damaging	Het
Mlh1	C	A	9: 111,252,863 (GRCm38)		probably null	Het
Mroh1	A	G	15: 76,433,275 (GRCm38)	D784G	possibly damaging	Het
Neo1	A	T	9: 58,956,005 (GRCm38)	D426E	probably benign	Het
Nol4	T	A	18: 23,038,602 (GRCm38)	M1L	probably benign	Het
Nr1h3	A	G	2: 91,185,025 (GRCm38)	F338S	probably damaging	Het
Oasl2	A	G	5: 114,905,057 (GRCm38)	K297E	probably benign	Het
Or10ag59	A	G	2: 87,575,797 (GRCm38)	T238A	probably benign	Het
Or10z1	C	T	1: 174,250,670 (GRCm38)	V86I	probably benign	Het
Or4f14	A	G	2: 111,912,582 (GRCm38)	I116T	probably benign	Het
Or56a5	T	C	7: 105,143,800 (GRCm38)	I164M	probably benign	Het
Or5m5	A	G	2: 85,984,716 (GRCm38)	N292S	possibly damaging	Het
Osbpl9	T	C	4: 109,133,773 (GRCm38)	T97A	possibly damaging	Het
P3h2	A	T	16: 25,970,937 (GRCm38)	Y527N	probably damaging	Het
Papss2	A	T	19: 32,620,179 (GRCm38)	H9L	probably benign	Het
Pcdha4	C	A	18: 36,953,301 (GRCm38)	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,836,338 (GRCm38)	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,272,968 (GRCm38)	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,827,253 (GRCm38)	L1633I	probably damaging	Het
Prss51	T	A	14: 64,095,927 (GRCm38)	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,457,042 (GRCm38)		probably benign	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Slc2a7	T	C	4: 150,154,684 (GRCm38)	I122T	possibly damaging	Het
Spata31e4	A	T	13: 50,701,781 (GRCm38)	D485V	probably damaging	Het
Sprr3	G	A	3: 92,457,108 (GRCm38)	P143L	probably benign	Het
Sugct	A	T	13: 17,577,519 (GRCm38)	S181T	possibly damaging	Het
Syne2	G	A	12: 76,038,923 (GRCm38)	R141Q	probably benign	Het
Taok1	T	C	11: 77,537,899 (GRCm38)	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,362,023 (GRCm38)		probably null	Het
Thada	T	C	17: 84,252,390 (GRCm38)	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,902,156 (GRCm38)	L104S	probably damaging	Het
Tln2	T	G	9: 67,395,473 (GRCm38)	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,814,311 (GRCm38)	E75G	probably damaging	Het
Tox3	A	G	8: 90,248,932 (GRCm38)	L357P	probably damaging	Het
Ubr4	T	C	4: 139,470,292 (GRCm38)	V4492A	unknown	Het
Ulk4	A	G	9: 121,266,512 (GRCm38)		probably null	Het
Ush2a	A	G	1: 188,443,406 (GRCm38)	T1234A	probably benign	Het
Usp53	G	A	3: 122,949,238 (GRCm38)	T683I	probably damaging	Het
Vcan	T	A	13: 89,689,323 (GRCm38)	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,750,626 (GRCm38)	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,586,401 (GRCm38)	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,263,040 (GRCm38)	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,447,157 (GRCm38)	D785G	probably benign	Het
Zfp397	A	T	18: 23,957,072 (GRCm38)	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,915,805 (GRCm38)	T1393S	possibly damaging	Het

Other mutations in AI661453

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:AI661453	APN	17	47,466,623 (GRCm38)	intron	probably benign
IGL01995:AI661453	APN	17	47,468,517 (GRCm38)	intron	probably benign
IGL02171:AI661453	APN	17	47,466,996 (GRCm38)	intron	probably benign
IGL02411:AI661453	APN	17	47,467,338 (GRCm38)	intron	probably benign
IGL02422:AI661453	APN	17	47,467,092 (GRCm38)	intron	probably benign
IGL02609:AI661453	APN	17	47,468,372 (GRCm38)	intron	probably benign
IGL02888:AI661453	APN	17	47,467,404 (GRCm38)	intron	probably benign
IGL03024:AI661453	APN	17	47,446,588 (GRCm38)	missense	probably damaging	1.00
R0077:AI661453	UTSW	17	47,469,362 (GRCm38)	intron	probably benign
R0092:AI661453	UTSW	17	47,467,515 (GRCm38)	intron	probably benign
R0144:AI661453	UTSW	17	47,469,299 (GRCm38)	intron	probably benign
R0330:AI661453	UTSW	17	47,446,646 (GRCm38)	missense	probably damaging	1.00
R0590:AI661453	UTSW	17	47,467,074 (GRCm38)	intron	probably benign
R0839:AI661453	UTSW	17	47,436,827 (GRCm38)	missense	probably null	0.97
R1350:AI661453	UTSW	17	47,467,928 (GRCm38)	nonsense	probably null
R1436:AI661453	UTSW	17	47,466,702 (GRCm38)	intron	probably benign
R1439:AI661453	UTSW	17	47,466,662 (GRCm38)	intron	probably benign
R1643:AI661453	UTSW	17	47,467,866 (GRCm38)	intron	probably benign
R1994:AI661453	UTSW	17	47,467,034 (GRCm38)	intron	probably benign
R2145:AI661453	UTSW	17	47,466,098 (GRCm38)	intron	probably benign
R2986:AI661453	UTSW	17	47,466,772 (GRCm38)	nonsense	probably null
R4398:AI661453	UTSW	17	47,468,117 (GRCm38)	intron	probably benign
R4809:AI661453	UTSW	17	47,467,187 (GRCm38)	intron	probably benign
R4913:AI661453	UTSW	17	47,468,555 (GRCm38)	nonsense	probably null
R4972:AI661453	UTSW	17	47,466,399 (GRCm38)	intron	probably benign
R6430:AI661453	UTSW	17	47,466,797 (GRCm38)	intron	probably benign
R6687:AI661453	UTSW	17	47,467,002 (GRCm38)	intron	probably benign
R7494:AI661453	UTSW	17	47,468,180 (GRCm38)	missense	unknown
R7598:AI661453	UTSW	17	47,466,120 (GRCm38)	missense	unknown
R7635:AI661453	UTSW	17	47,467,751 (GRCm38)	missense	unknown
R7920:AI661453	UTSW	17	47,468,406 (GRCm38)	missense	unknown
R7974:AI661453	UTSW	17	47,466,081 (GRCm38)	missense	unknown
R8022:AI661453	UTSW	17	47,466,236 (GRCm38)	missense	unknown
R8489:AI661453	UTSW	17	47,466,329 (GRCm38)	intron	probably benign
R8771:AI661453	UTSW	17	47,466,758 (GRCm38)	missense	unknown
R9316:AI661453	UTSW	17	47,436,907 (GRCm38)	missense	probably benign	0.05
R9596:AI661453	UTSW	17	47,469,486 (GRCm38)	missense	unknown
R9743:AI661453	UTSW	17	47,469,315 (GRCm38)	missense	unknown
R9766:AI661453	UTSW	17	47,446,645 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTCAAGCCTACACCAGGGC -3'
(R):5'- AAATGGTGCCTCTTCTCCAC -3'

Sequencing Primer
(F):5'- TGGGCTAACTTTACCACTCAAG -3'
(R):5'- TCCACTGGTAGACATCTTTGG -3'

Posted On

2019-11-26