Mutagenetix > Incidental Mutation

Incidental Mutation 'R3710:Atrnl1'

259575

Institutional Source

Beutler Lab

Gene Symbol

Atrnl1

Ensembl Gene

ENSMUSG00000054843

Gene Name

attractin like 1

Synonyms

Alp

MMRRC Submission

040703-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R3710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57599466-58121775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57645546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 469 (H469N)

Ref Sequence

ENSEMBL: ENSMUSP00000076514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077282]

AlphaFold

Q6A051

Predicted Effect

probably damaging
Transcript: ENSMUST00000077282
AA Change: H469N

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

SMART Domains

Protein: ENSMUSP00000076514
Gene: ENSMUSG00000054843
AA Change: H469N

Domain	Start	End	E-Value	Type
low complexity region	25	32	N/A	INTRINSIC
EGF	61	90	5.71e-1	SMART
CUB	92	208	1.43e-11	SMART
EGF	209	244	1.95e1	SMART
Pfam:EGF_2	248	279	5.8e-7	PFAM
Pfam:Kelch_5	350	391	2.1e-9	PFAM
Pfam:Kelch_6	354	401	5.8e-8	PFAM
Pfam:Kelch_4	465	517	4.3e-7	PFAM
Pfam:Kelch_1	519	573	2.7e-6	PFAM
PSI	613	656	3.38e-1	SMART
PSI	665	708	2e-3	SMART
PSI	714	759	1.72e-2	SMART
CLECT	747	872	2.86e-20	SMART
PSI	888	938	6.26e-5	SMART
PSI	941	1011	1.73e-7	SMART
EGF_Lam	1013	1056	1.07e-5	SMART
low complexity region	1157	1173	N/A	INTRINSIC
transmembrane domain	1229	1251	N/A	INTRINSIC
low complexity region	1261	1272	N/A	INTRINSIC
low complexity region	1326	1339	N/A	INTRINSIC

Meta Mutation Damage Score

0.4531

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (55/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,597,384 (GRCm39)		probably benign	Het
Agbl2	G	A	2: 90,636,152 (GRCm39)	D563N	probably benign	Het
Aida	C	A	1: 183,085,610 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,577,095 (GRCm39)	D200G	probably damaging	Het
Ankrd28	A	G	14: 31,470,808 (GRCm39)		probably benign	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bud23	A	C	5: 135,085,204 (GRCm39)	S41A	possibly damaging	Het
Car12	G	T	9: 66,658,260 (GRCm39)	A21S	probably damaging	Het
Cav3	T	A	6: 112,436,774 (GRCm39)	M1K	probably null	Het
Cdc42bpa	A	G	1: 179,892,628 (GRCm39)	D264G	probably damaging	Het
Cic	A	G	7: 24,986,406 (GRCm39)	D1276G	probably damaging	Het
Col2a1	A	G	15: 97,888,788 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Csn3	C	A	5: 88,077,882 (GRCm39)	N129K	possibly damaging	Het
Diaph1	C	A	18: 37,978,537 (GRCm39)	G1209W	probably damaging	Het
Dsg2	A	G	18: 20,735,174 (GRCm39)	T1051A	probably damaging	Het
Gm1965	A	T	6: 89,122,407 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsto1	T	C	19: 47,847,971 (GRCm39)		probably null	Het
Il15ra	G	T	2: 11,735,458 (GRCm39)		probably null	Het
Ipo8	A	T	6: 148,707,842 (GRCm39)		probably null	Het
Lsm14a	T	A	7: 34,053,204 (GRCm39)	I283F	probably damaging	Het
Mael	T	C	1: 166,066,135 (GRCm39)	D34G	probably damaging	Het
Marchf6	A	T	15: 31,509,972 (GRCm39)		probably benign	Het
Mtmr10	C	A	7: 63,976,433 (GRCm39)	A410D	possibly damaging	Het
Myh9	T	C	15: 77,657,547 (GRCm39)	E1066G	possibly damaging	Het
Nim1k	A	G	13: 120,173,635 (GRCm39)	S420P	probably benign	Het
Nlrp4c	T	A	7: 6,068,627 (GRCm39)	V176E	probably damaging	Het
Ogfod1	A	T	8: 94,784,380 (GRCm39)	K313*	probably null	Het
Or5an1	T	G	19: 12,260,450 (GRCm39)	F13V	probably damaging	Het
Osbpl10	C	A	9: 115,036,655 (GRCm39)	P253Q	probably benign	Het
Otof	A	T	5: 30,542,610 (GRCm39)	M661K	probably benign	Het
Rbms2	C	T	10: 127,979,312 (GRCm39)	R139Q	probably damaging	Het
Rimbp2	G	A	5: 128,866,795 (GRCm39)	T508I	probably benign	Het
Ros1	A	T	10: 52,037,991 (GRCm39)	C393*	probably null	Het
Rps17	T	A	7: 80,994,672 (GRCm39)	T30S	probably benign	Het
Rps3	T	C	7: 99,128,626 (GRCm39)	K197R	probably benign	Het
Samd11	G	A	4: 156,334,952 (GRCm39)	L109F	probably damaging	Het
Smarca2	T	G	19: 26,646,290 (GRCm39)		probably benign	Het
Sprr2g	C	A	3: 92,282,036 (GRCm39)	P30Q	unknown	Het
Spz1	G	A	13: 92,711,631 (GRCm39)	Q282*	probably null	Het
Syne3	A	G	12: 104,909,697 (GRCm39)	L713P	possibly damaging	Het
Tgm1	C	A	14: 55,950,052 (GRCm39)		probably benign	Het
Tomm22	T	C	15: 79,555,419 (GRCm39)	F55L	probably damaging	Het
Tph2	T	A	10: 115,009,963 (GRCm39)	Y199F	probably benign	Het
Vmn2r108	A	T	17: 20,682,932 (GRCm39)	F757L	probably benign	Het
Vmn2r69	T	A	7: 85,055,601 (GRCm39)	T846S	probably benign	Het
Was	G	T	X: 7,952,927 (GRCm39)	S271R	probably benign	Het
Zc3hav1	A	C	6: 38,309,097 (GRCm39)	M575R	probably benign	Het

Other mutations in Atrnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Atrnl1	APN	19	57,680,249 (GRCm39)	missense	probably benign	0.02
IGL00707:Atrnl1	APN	19	57,661,697 (GRCm39)	missense	probably damaging	0.96
IGL00921:Atrnl1	APN	19	57,690,585 (GRCm39)	missense	probably damaging	1.00
IGL01410:Atrnl1	APN	19	58,119,536 (GRCm39)	missense	probably damaging	1.00
IGL01468:Atrnl1	APN	19	57,688,144 (GRCm39)	missense	probably benign	0.02
IGL01756:Atrnl1	APN	19	57,641,380 (GRCm39)	missense	probably benign
IGL01971:Atrnl1	APN	19	57,741,715 (GRCm39)	missense	probably damaging	1.00
IGL02019:Atrnl1	APN	19	57,680,195 (GRCm39)	splice site	probably benign
IGL02580:Atrnl1	APN	19	57,703,008 (GRCm39)	splice site	probably benign
IGL02649:Atrnl1	APN	19	57,638,873 (GRCm39)	splice site	probably benign
IGL02676:Atrnl1	APN	19	57,680,316 (GRCm39)	missense	probably damaging	1.00
IGL03276:Atrnl1	APN	19	57,641,359 (GRCm39)	missense	probably damaging	0.99
IGL03379:Atrnl1	APN	19	57,630,973 (GRCm39)	missense	probably benign	0.02
Magnetogorsk	UTSW	19	57,618,738 (GRCm39)	missense	probably damaging	1.00
polar	UTSW	19	57,641,382 (GRCm39)	missense	probably benign	0.00
PIT4812001:Atrnl1	UTSW	19	57,720,055 (GRCm39)	missense	probably benign	0.08
R0109:Atrnl1	UTSW	19	57,743,949 (GRCm39)	missense	possibly damaging	0.78
R0308:Atrnl1	UTSW	19	57,741,720 (GRCm39)	missense	probably benign	0.04
R0394:Atrnl1	UTSW	19	57,661,608 (GRCm39)	missense	probably benign	0.10
R0734:Atrnl1	UTSW	19	57,643,293 (GRCm39)	missense	probably damaging	1.00
R0811:Atrnl1	UTSW	19	57,661,573 (GRCm39)	missense	probably benign	0.07
R0812:Atrnl1	UTSW	19	57,661,573 (GRCm39)	missense	probably benign	0.07
R1183:Atrnl1	UTSW	19	57,638,725 (GRCm39)	missense	probably damaging	0.97
R1213:Atrnl1	UTSW	19	57,626,894 (GRCm39)	missense	probably benign	0.25
R1344:Atrnl1	UTSW	19	57,924,137 (GRCm39)	critical splice donor site	probably null
R1418:Atrnl1	UTSW	19	57,924,137 (GRCm39)	critical splice donor site	probably null
R1707:Atrnl1	UTSW	19	57,675,169 (GRCm39)	missense	probably benign	0.00
R1748:Atrnl1	UTSW	19	57,703,134 (GRCm39)	missense	probably damaging	0.99
R2051:Atrnl1	UTSW	19	57,680,281 (GRCm39)	missense	probably benign	0.01
R2113:Atrnl1	UTSW	19	57,744,048 (GRCm39)	nonsense	probably null
R2130:Atrnl1	UTSW	19	57,643,426 (GRCm39)	missense	probably damaging	1.00
R3916:Atrnl1	UTSW	19	57,924,084 (GRCm39)	missense	possibly damaging	0.82
R4524:Atrnl1	UTSW	19	57,618,738 (GRCm39)	missense	probably damaging	1.00
R4707:Atrnl1	UTSW	19	57,617,590 (GRCm39)	missense	probably damaging	0.97
R4712:Atrnl1	UTSW	19	57,641,382 (GRCm39)	missense	probably benign	0.00
R4784:Atrnl1	UTSW	19	57,617,590 (GRCm39)	missense	probably damaging	0.97
R4785:Atrnl1	UTSW	19	57,617,590 (GRCm39)	missense	probably damaging	0.97
R4798:Atrnl1	UTSW	19	58,030,793 (GRCm39)	missense	probably benign
R5172:Atrnl1	UTSW	19	57,673,945 (GRCm39)	nonsense	probably null
R5226:Atrnl1	UTSW	19	57,638,767 (GRCm39)	missense	probably benign
R5289:Atrnl1	UTSW	19	57,645,514 (GRCm39)	missense	probably damaging	1.00
R5372:Atrnl1	UTSW	19	57,743,968 (GRCm39)	missense	probably benign
R5737:Atrnl1	UTSW	19	57,766,320 (GRCm39)	missense	possibly damaging	0.84
R5782:Atrnl1	UTSW	19	57,741,718 (GRCm39)	missense	possibly damaging	0.95
R5826:Atrnl1	UTSW	19	57,618,724 (GRCm39)	nonsense	probably null
R6169:Atrnl1	UTSW	19	57,630,895 (GRCm39)	missense	probably benign	0.00
R6242:Atrnl1	UTSW	19	57,630,910 (GRCm39)	missense	probably benign	0.02
R6342:Atrnl1	UTSW	19	57,626,942 (GRCm39)	missense	probably damaging	1.00
R6372:Atrnl1	UTSW	19	57,638,764 (GRCm39)	missense	probably benign	0.01
R6811:Atrnl1	UTSW	19	57,643,393 (GRCm39)	missense	probably damaging	0.98
R6897:Atrnl1	UTSW	19	58,030,800 (GRCm39)	missense	probably benign	0.01
R7024:Atrnl1	UTSW	19	57,626,882 (GRCm39)	critical splice acceptor site	probably null
R7085:Atrnl1	UTSW	19	57,680,289 (GRCm39)	missense	probably damaging	1.00
R7144:Atrnl1	UTSW	19	58,030,784 (GRCm39)	missense	probably damaging	1.00
R7259:Atrnl1	UTSW	19	57,924,038 (GRCm39)	nonsense	probably null
R7289:Atrnl1	UTSW	19	57,638,846 (GRCm39)	missense	probably benign	0.13
R7310:Atrnl1	UTSW	19	57,630,856 (GRCm39)	missense	possibly damaging	0.69
R7372:Atrnl1	UTSW	19	57,924,078 (GRCm39)	missense	possibly damaging	0.47
R7432:Atrnl1	UTSW	19	57,743,956 (GRCm39)	missense	probably damaging	1.00
R7478:Atrnl1	UTSW	19	57,684,744 (GRCm39)	missense	possibly damaging	0.89
R7556:Atrnl1	UTSW	19	57,643,278 (GRCm39)	missense	probably benign
R7567:Atrnl1	UTSW	19	57,687,955 (GRCm39)	missense	probably damaging	0.98
R7608:Atrnl1	UTSW	19	57,703,119 (GRCm39)	missense	probably damaging	1.00
R7632:Atrnl1	UTSW	19	57,618,738 (GRCm39)	missense	probably damaging	1.00
R7655:Atrnl1	UTSW	19	57,599,811 (GRCm39)	nonsense	probably null
R7656:Atrnl1	UTSW	19	57,599,811 (GRCm39)	nonsense	probably null
R7718:Atrnl1	UTSW	19	57,728,615 (GRCm39)	nonsense	probably null
R7721:Atrnl1	UTSW	19	57,684,763 (GRCm39)	missense	probably benign	0.00
R7726:Atrnl1	UTSW	19	57,690,504 (GRCm39)	missense	probably damaging	1.00
R7733:Atrnl1	UTSW	19	57,690,420 (GRCm39)	missense	probably benign	0.00
R7774:Atrnl1	UTSW	19	57,688,103 (GRCm39)	missense	probably damaging	1.00
R8010:Atrnl1	UTSW	19	57,670,878 (GRCm39)	missense	probably benign	0.14
R8119:Atrnl1	UTSW	19	57,630,895 (GRCm39)	missense	probably benign	0.00
R9242:Atrnl1	UTSW	19	57,645,660 (GRCm39)	missense	probably benign	0.07
R9265:Atrnl1	UTSW	19	57,766,359 (GRCm39)	missense	probably benign	0.11
R9272:Atrnl1	UTSW	19	57,643,420 (GRCm39)	missense	probably benign	0.00
R9480:Atrnl1	UTSW	19	57,690,420 (GRCm39)	missense	possibly damaging	0.61
R9526:Atrnl1	UTSW	19	57,617,551 (GRCm39)	missense	probably damaging	0.99
R9672:Atrnl1	UTSW	19	57,618,695 (GRCm39)	missense	possibly damaging	0.87
R9673:Atrnl1	UTSW	19	57,599,786 (GRCm39)	start codon destroyed	probably null	0.04
RF021:Atrnl1	UTSW	19	57,630,905 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATTTTGGGACATGCAGGATG -3'
(R):5'- GATAAAGATACTGTTGCCCAGCC -3'

Sequencing Primer
(F):5'- CACCGAAGTGGCTTTAAGTACTG -3'
(R):5'- ATACTGTTGCCCAGCCCTTCC -3'

Posted On

2015-01-23