Mutagenetix > Incidental Mutation

Incidental Mutation 'R7494:AI661453'

581012

Institutional Source

Beutler Lab

Gene Symbol

AI661453

Ensembl Gene

ENSMUSG00000034382

Gene Name

expressed sequence AI661453

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R7494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47747564-47781563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47779105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 944 (P944S)

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

unknown
Transcript: ENSMUST00000150819
AA Change: P944S

SMART Domains

Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: P944S

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,099,571 (GRCm39)	T992I	possibly damaging	Het
Adamts10	T	A	17: 33,768,352 (GRCm39)	C841*	probably null	Het
Als2	G	A	1: 59,222,325 (GRCm39)		probably null	Het
Anapc2	A	G	2: 25,166,376 (GRCm39)	E381G	possibly damaging	Het
Ank3	T	C	10: 69,824,756 (GRCm39)	Y1142H		Het
Apip	A	T	2: 102,922,896 (GRCm39)	N238I	probably benign	Het
Cblc	A	T	7: 19,526,737 (GRCm39)	V165D	possibly damaging	Het
Cep295nl	T	A	11: 118,224,758 (GRCm39)	M29L	probably benign	Het
Clec12a	A	G	6: 129,330,362 (GRCm39)	I47V	possibly damaging	Het
Dpp9	T	C	17: 56,507,619 (GRCm39)	Y350C	probably damaging	Het
Enpp2	C	T	15: 54,773,554 (GRCm39)	G56R	probably damaging	Het
Epsti1	G	T	14: 78,166,194 (GRCm39)	E82D	probably benign	Het
Eri2	C	A	7: 119,385,304 (GRCm39)	C399F	probably damaging	Het
Ern1	T	C	11: 106,298,361 (GRCm39)	T672A	probably damaging	Het
Fbxo21	T	A	5: 118,138,388 (GRCm39)	C445S	possibly damaging	Het
Folh1	G	T	7: 86,368,907 (GRCm39)	T740K	probably damaging	Het
Gapt	A	G	13: 110,490,262 (GRCm39)	Y134H	probably damaging	Het
Gm19410	T	C	8: 36,262,684 (GRCm39)	S874P	probably damaging	Het
Gm2431	G	A	7: 141,811,547 (GRCm39)	P119L	unknown	Het
Gzmc	G	A	14: 56,469,785 (GRCm39)	Q172*	probably null	Het
Hoxa1	C	A	6: 52,134,571 (GRCm39)	V211F	probably damaging	Het
Hyou1	G	T	9: 44,300,706 (GRCm39)	R925L	probably benign	Het
Ift70a1	A	C	2: 75,810,242 (GRCm39)	F614V	probably damaging	Het
Ilvbl	A	G	10: 78,414,857 (GRCm39)	Y240C	possibly damaging	Het
Lama1	T	A	17: 68,118,441 (GRCm39)	F2551Y		Het
Lrrtm3	A	G	10: 63,924,958 (GRCm39)	Y70H	probably damaging	Het
Naa38	T	A	11: 69,287,126 (GRCm39)	C69S	probably damaging	Het
Or12e7	T	A	2: 87,287,912 (GRCm39)	N134K	probably damaging	Het
Or2t46	T	C	11: 58,472,038 (GRCm39)	S123P	probably damaging	Het
Or8k25	A	T	2: 86,243,592 (GRCm39)	I268N	probably benign	Het
Panx3	A	G	9: 37,572,608 (GRCm39)	L314P	probably damaging	Het
Polr2f	T	C	15: 79,028,865 (GRCm39)		probably null	Het
Prkcd	C	A	14: 30,331,150 (GRCm39)	R75L	probably benign	Het
Psap	A	C	10: 60,135,275 (GRCm39)	L313F	probably benign	Het
Psen1	T	A	12: 83,775,017 (GRCm39)	C263S	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Pura	T	A	18: 36,420,942 (GRCm39)	M243K	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Septin1	T	A	7: 126,814,122 (GRCm39)	E338V	probably damaging	Het
Sgms1	A	G	19: 32,107,091 (GRCm39)	F255L	probably benign	Het
Slc4a2	A	G	5: 24,637,862 (GRCm39)	T353A	possibly damaging	Het
Smg6	T	C	11: 74,820,449 (GRCm39)	V240A	probably benign	Het
Sntg2	T	G	12: 30,279,633 (GRCm39)	D340A	possibly damaging	Het
Sun1	C	T	5: 139,221,475 (GRCm39)	P553S	probably benign	Het
Tas2r140	T	C	6: 40,468,254 (GRCm39)	V28A	probably damaging	Het
Tfcp2l1	T	C	1: 118,592,686 (GRCm39)	F323S	probably damaging	Het
Thoc2l	T	C	5: 104,666,284 (GRCm39)	Y269H	possibly damaging	Het
Tpcn2	G	A	7: 144,832,586 (GRCm39)	T90I	possibly damaging	Het
Ttn	A	T	2: 76,720,321 (GRCm39)	Y6968*	probably null	Het
Vmn2r44	A	T	7: 8,386,122 (GRCm39)	L39*	probably null	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
R1350:AI661453	UTSW	17	47,778,853 (GRCm39)	nonsense	probably null
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
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'- ATTGGACGGTCCTCTTTGCC -3'
(R):5'- ATCGTTGCTGAACTCTGGC -3'

Sequencing Primer
(F):5'- GGAGTCTCCGTGACCATAGCAAC -3'
(R):5'- TGGCGGCGGAGGAATGATATC -3'

Posted On

2019-10-17