Mutagenetix > Incidental Mutation

Incidental Mutation 'R0350:Armh1'

29645

Institutional Source

Beutler Lab

Gene Symbol

Armh1

Ensembl Gene

ENSMUSG00000060268

Gene Name

armadillo-like helical domain containing 1

Synonyms

LOC381544, LOC381543, Ncrna00082, Gm1661

MMRRC Submission

038557-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117070531-117109322 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 117072753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 244 (E244*)

Ref Sequence

ENSEMBL: ENSMUSP00000128613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077500] [ENSMUST00000165128]

AlphaFold

E9Q963

Predicted Effect

probably null
Transcript: ENSMUST00000077500
AA Change: E244*

SMART Domains

Protein: ENSMUSP00000076706
Gene: ENSMUSG00000060268
AA Change: E244*

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	156	272	3e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141554

Predicted Effect

probably null
Transcript: ENSMUST00000165128
AA Change: E244*

SMART Domains

Protein: ENSMUSP00000128613
Gene: ENSMUSG00000060268
AA Change: E244*

Domain	Start	End	E-Value	Type
low complexity region	162	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179427

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	A	8: 10,037,600 (GRCm39)	Y66N	probably damaging	Het
Apol6	C	T	15: 76,935,147 (GRCm39)	Q139*	probably null	Het
Cd1d1	A	T	3: 86,904,880 (GRCm39)	H219Q	probably benign	Het
Cdca2	A	G	14: 67,950,568 (GRCm39)	L121P	probably benign	Het
Cdin1	T	C	2: 115,607,411 (GRCm39)	Y255H	possibly damaging	Het
Cog4	T	A	8: 111,580,328 (GRCm39)	L133I	possibly damaging	Het
Csf1	T	C	3: 107,655,922 (GRCm39)	M370V	probably benign	Het
Ddi2	G	A	4: 141,412,834 (GRCm39)	T26M	probably benign	Het
Dhcr7	A	G	7: 143,391,507 (GRCm39)	D32G	probably damaging	Het
Efcab3	T	C	11: 104,581,706 (GRCm39)	V16A	probably benign	Het
Exd1	T	C	2: 119,354,047 (GRCm39)	N337S	possibly damaging	Het
Flii	T	C	11: 60,612,683 (GRCm39)	D227G	probably damaging	Het
Hsf1	A	G	15: 76,384,679 (GRCm39)	T485A	probably benign	Het
Igfn1	G	A	1: 135,884,505 (GRCm39)	R2614*	probably null	Het
Iqch	T	C	9: 63,408,158 (GRCm39)	T630A	probably benign	Het
Itgal	T	A	7: 126,921,253 (GRCm39)	D770E	probably damaging	Het
Mroh1	T	A	15: 76,316,449 (GRCm39)	V759E	probably damaging	Het
Mrps17	A	G	5: 129,795,209 (GRCm39)		probably benign	Het
Mtpap	A	G	18: 4,396,195 (GRCm39)	S496G	possibly damaging	Het
Nkd1	T	A	8: 89,311,844 (GRCm39)	Y39*	probably null	Het
Nmd3	A	G	3: 69,650,907 (GRCm39)	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,022,170 (GRCm39)	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,341,112 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,112,926 (GRCm39)		probably null	Het
Or4c113	T	A	2: 88,885,700 (GRCm39)	K23N	probably benign	Het
Or8b12i	A	T	9: 20,082,032 (GRCm39)	Y278*	probably null	Het
Pnn	T	C	12: 59,113,903 (GRCm39)		probably null	Het
Ppm1j	A	G	3: 104,690,687 (GRCm39)	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,172,442 (GRCm39)	L650Q	probably damaging	Het
Prss37	T	C	6: 40,491,893 (GRCm39)	E229G	probably damaging	Het
Rbm19	T	C	5: 120,266,372 (GRCm39)	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,278,331 (GRCm39)	V372F	probably damaging	Het
Sema6a	G	T	18: 47,403,785 (GRCm39)	D595E	probably benign	Het
Slc35c1	A	G	2: 92,289,377 (GRCm39)	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,232,619 (GRCm39)		probably null	Het
Slco4c1	A	G	1: 96,756,574 (GRCm39)	F583L	probably benign	Het
Sox9	A	G	11: 112,675,702 (GRCm39)	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,564,884 (GRCm39)	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,861,321 (GRCm39)		probably null	Het
Uba6	A	C	5: 86,292,237 (GRCm39)	V402G	possibly damaging	Het
Usp43	T	C	11: 67,767,324 (GRCm39)	Y682C	probably damaging	Het
Vmn1r195	A	G	13: 22,463,403 (GRCm39)	D291G	probably damaging	Het
Xpr1	A	T	1: 155,206,214 (GRCm39)	F156Y	probably damaging	Het
Yju2b	C	T	8: 84,987,277 (GRCm39)	E99K	probably damaging	Het
Zfp318	T	A	17: 46,724,124 (GRCm39)	H2042Q	probably benign	Het
Zfp937	T	A	2: 150,081,222 (GRCm39)	D417E	possibly damaging	Het

Other mutations in Armh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Armh1	APN	4	117,094,860 (GRCm39)	missense	probably benign	0.37
R0584:Armh1	UTSW	4	117,087,047 (GRCm39)	missense	probably damaging	1.00
R1570:Armh1	UTSW	4	117,087,189 (GRCm39)	missense	probably damaging	1.00
R4335:Armh1	UTSW	4	117,071,660 (GRCm39)	missense	probably damaging	0.99
R4898:Armh1	UTSW	4	117,094,977 (GRCm39)	missense	probably damaging	1.00
R5939:Armh1	UTSW	4	117,087,119 (GRCm39)	missense	probably damaging	1.00
R6300:Armh1	UTSW	4	117,088,979 (GRCm39)	missense	probably damaging	1.00
R6815:Armh1	UTSW	4	117,087,134 (GRCm39)	missense	probably damaging	1.00
R7526:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7529:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7630:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7632:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7659:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7660:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7662:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7663:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7665:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7666:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7713:Armh1	UTSW	4	117,071,425 (GRCm39)	missense	possibly damaging	0.65
R8030:Armh1	UTSW	4	117,087,184 (GRCm39)	missense	probably benign	0.31
R8433:Armh1	UTSW	4	117,085,535 (GRCm39)	missense	probably benign	0.43
R8693:Armh1	UTSW	4	117,088,960 (GRCm39)	missense	probably damaging	1.00
R8756:Armh1	UTSW	4	117,094,861 (GRCm39)	missense	probably benign
R8832:Armh1	UTSW	4	117,094,867 (GRCm39)	missense	probably damaging	0.97
R8957:Armh1	UTSW	4	117,087,104 (GRCm39)	missense	probably damaging	1.00
R9064:Armh1	UTSW	4	117,094,855 (GRCm39)	missense	probably benign	0.00
Z1088:Armh1	UTSW	4	117,070,992 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTAGCTTGCTGCAATCACCCAC -3'
(R):5'- TCTGACCTCCGGGACTTTCTTGATG -3'

Sequencing Primer
(F):5'- TACCCAATGGTCTTGGCAG -3'
(R):5'- CTTGATGGGCTAGGCATCC -3'

Posted On

2013-04-24