Mutagenetix > Incidental Mutation

Incidental Mutation 'R9596:AI661453'

723305

Institutional Source

Beutler Lab

Gene Symbol

AI661453

Ensembl Gene

ENSMUSG00000034382

Gene Name

expressed sequence AI661453

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9596 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47747564-47781563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47780411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 188 (S188P)

Ref Sequence

ENSEMBL: ENSMUSP00000045345 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000037701
AA Change: S188P

SMART Domains

Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382
AA Change: S188P

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 benign
Transcript: ENSMUST00000150819

SMART Domains

Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382

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: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	G	T	1: 74,320,262 (GRCm39)	Q355K	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Atp10a	A	G	7: 58,477,553 (GRCm39)	S1251G	probably damaging	Het
Ccr10	A	G	11: 101,065,018 (GRCm39)	F171L	probably benign	Het
Clec10a	A	T	11: 70,059,973 (GRCm39)	D65V	probably damaging	Het
Clybl	A	T	14: 122,548,768 (GRCm39)	I57L	probably benign	Het
Col5a1	G	T	2: 27,819,551 (GRCm39)	E218*	probably null	Het
Diaph1	G	A	18: 38,024,111 (GRCm39)	P576S	unknown	Het
Dsg1c	T	A	18: 20,416,361 (GRCm39)	I754N	probably benign	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fastkd3	G	A	13: 68,735,806 (GRCm39)	V519M	probably damaging	Het
Fhod3	T	A	18: 25,193,392 (GRCm39)	Y634*	probably null	Het
Frem3	G	A	8: 81,341,951 (GRCm39)	V1415I	probably benign	Het
Herc2	G	A	7: 55,834,595 (GRCm39)	S3191N		Het
Kif19a	A	T	11: 114,676,752 (GRCm39)	E527V	probably benign	Het
Lmbr1	C	A	5: 29,440,105 (GRCm39)	G420*	probably null	Het
Map3k9	A	G	12: 81,777,404 (GRCm39)	S526P	probably damaging	Het
Mink1	T	A	11: 70,497,915 (GRCm39)	L506Q	possibly damaging	Het
Mroh9	T	C	1: 162,893,576 (GRCm39)	I200V	probably damaging	Het
Mrps14	T	C	1: 160,027,122 (GRCm39)	V110A	possibly damaging	Het
Mta1	A	G	12: 113,090,470 (GRCm39)	Q209R	probably damaging	Het
Mtss2	G	A	8: 111,458,689 (GRCm39)	S195N		Het
Nlgn1	T	A	3: 25,488,587 (GRCm39)	I583F	probably damaging	Het
Ntng1	T	C	3: 110,042,956 (GRCm39)		probably benign	Het
Or10w1	A	G	19: 13,632,002 (GRCm39)	S70G	probably damaging	Het
Or1p1c	C	T	11: 74,160,289 (GRCm39)	H25Y	probably benign	Het
Or2ag13	A	T	7: 106,313,412 (GRCm39)	Y159N	probably benign	Het
Or5ac25	A	G	16: 59,181,942 (GRCm39)	I213T	possibly damaging	Het
Or6c65	A	G	10: 129,603,988 (GRCm39)	T208A	probably damaging	Het
Pcdha12	A	T	18: 37,154,302 (GRCm39)	L340F	probably benign	Het
Pdk4	T	A	6: 5,491,842 (GRCm39)	M173L	probably benign	Het
Pds5a	A	G	5: 65,772,830 (GRCm39)	S1258P	probably benign	Het
Plcd1	A	T	9: 118,917,183 (GRCm39)	L22Q	probably benign	Het
Prag1	A	G	8: 36,570,113 (GRCm39)	D232G	probably damaging	Het
Rest	C	T	5: 77,423,141 (GRCm39)	T315M	probably damaging	Het
Scrn2	G	A	11: 96,923,907 (GRCm39)	V264M	probably damaging	Het
Sipa1l3	C	A	7: 29,031,691 (GRCm39)	V1513F	probably benign	Het
Skic3	T	C	13: 76,330,968 (GRCm39)	V1466A	possibly damaging	Het
Slc44a1	T	A	4: 53,544,553 (GRCm39)	N421K	probably benign	Het
Smc6	G	T	12: 11,345,045 (GRCm39)	R662I	probably damaging	Het
Spata31e5	C	A	1: 28,815,688 (GRCm39)	M781I	probably benign	Het
Srcap	T	A	7: 127,131,036 (GRCm39)	W751R	probably damaging	Het
Sv2b	A	G	7: 74,767,462 (GRCm39)	F645L	probably damaging	Het
Sycp2	A	G	2: 177,990,212 (GRCm39)		probably null	Het
Syne4	A	G	7: 30,014,504 (GRCm39)	T41A	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trap1	A	T	16: 3,871,374 (GRCm39)	I381N	probably damaging	Het
Tshz1	A	G	18: 84,031,904 (GRCm39)	S835P	possibly damaging	Het
Ube3b	T	A	5: 114,527,171 (GRCm39)	W130R	probably damaging	Het
Ubr5	G	A	15: 37,986,213 (GRCm39)	T2207I		Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r11	T	G	5: 109,201,563 (GRCm39)	I314L	possibly damaging	Het
Vmn2r15	T	A	5: 109,440,791 (GRCm39)	I356L	probably benign	Het
Vmn2r31	G	T	7: 7,397,292 (GRCm39)	T322N	probably benign	Het
Vmn2r8	A	T	5: 108,947,196 (GRCm39)	F519I	possibly damaging	Het
Wdr35	T	C	12: 9,036,092 (GRCm39)	F288L	probably benign	Het
Xab2	A	T	8: 3,663,018 (GRCm39)	V521D	probably damaging	Het
Zfp639	T	C	3: 32,574,269 (GRCm39)	F298S	probably damaging	Het
Zfp786	G	A	6: 47,797,406 (GRCm39)	R511*	probably null	Het
Zfp936	T	A	7: 42,839,834 (GRCm39)	C434S	probably damaging	Het
Zranb1	T	C	7: 132,552,146 (GRCm39)	F266L	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
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
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
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'- ACATTCACCGTGAGACCTGG -3'
(R):5'- ATCGTTTGTGAGGCTCTGAC -3'

Sequencing Primer
(F):5'- GGACCCGCCATCCCATCTC -3'
(R):5'- GGCAAACTGTCACCTCCATGG -3'

Posted On

2022-08-09