Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:Armh3'

227101

Institutional Source

Beutler Lab

Gene Symbol

Armh3

Ensembl Gene

ENSMUSG00000039901

Gene Name

armadillo-like helical domain containing 3

Synonyms

9130011E15Rik

MMRRC Submission

040075-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45805803-45986927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45879724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 543 (P543Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045396]

AlphaFold

Q6PD19

Predicted Effect

probably damaging
Transcript: ENSMUST00000045396
AA Change: P543Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: P543Q

Domain	Start	End	E-Value	Type
low complexity region	155	167	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
DUF1741	435	671	5.65e-139	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Ablim2	G	A	5: 35,955,857 (GRCm39)	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,861,988 (GRCm39)	F497S	probably damaging	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bmi1	A	G	2: 18,688,851 (GRCm39)	I207V	probably benign	Het
Bnip3l	A	G	14: 67,226,671 (GRCm39)	M174T	probably damaging	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccdc121	T	C	5: 31,644,727 (GRCm39)	V160A	possibly damaging	Het
Ccdc27	T	A	4: 154,126,270 (GRCm39)	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,370,518 (GRCm39)	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cilp	T	A	9: 65,186,377 (GRCm39)	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Cntnap1	A	G	11: 101,073,805 (GRCm39)	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,554,978 (GRCm39)	I2033M	probably benign	Het
Cwh43	T	C	5: 73,578,860 (GRCm39)	L289P	probably damaging	Het
Ddhd1	T	C	14: 45,848,081 (GRCm39)	D529G	probably damaging	Het
Defb28	T	A	2: 152,362,064 (GRCm39)	S75T	probably benign	Het
Dennd2a	A	T	6: 39,442,053 (GRCm39)	V939D	probably damaging	Het
Dlg5	T	C	14: 24,186,703 (GRCm39)	R1866G	probably damaging	Het
Dsc1	C	T	18: 20,221,353 (GRCm39)		probably null	Het
Ecscr	T	G	18: 35,848,490 (GRCm39)	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,763,372 (GRCm39)	R55L	probably damaging	Het
Eml1	G	T	12: 108,479,258 (GRCm39)	V344L	probably damaging	Het
Exoc2	G	T	13: 30,999,353 (GRCm39)	N901K	probably benign	Het
Fam161b	T	A	12: 84,403,202 (GRCm39)	I143F	probably benign	Het
Fam180a	A	G	6: 35,302,846 (GRCm39)	S2P	probably benign	Het
Fat3	T	A	9: 15,910,666 (GRCm39)	I1779F	probably benign	Het
Fat4	A	G	3: 39,064,804 (GRCm39)	K4920R	probably benign	Het
Fsip2	T	A	2: 82,806,699 (GRCm39)	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566 (GRCm39)	S30G	probably damaging	Het
Gm5414	A	T	15: 101,536,495 (GRCm39)	S43R	possibly damaging	Het
Hao1	T	C	2: 134,372,535 (GRCm39)	T158A	probably damaging	Het
Hic1	T	C	11: 75,059,885 (GRCm39)	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,304,431 (GRCm39)	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,208,579 (GRCm39)	K122*	probably null	Het
Jakmip2	T	C	18: 43,696,395 (GRCm39)	E518G	probably benign	Het
Kmt2e	A	G	5: 23,706,993 (GRCm39)	T1519A	probably benign	Het
Lfng	T	C	5: 140,598,350 (GRCm39)	I224T	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map4k5	C	T	12: 69,863,111 (GRCm39)	V629I	probably damaging	Het
Med12l	A	G	3: 59,152,326 (GRCm39)	D1037G	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mptx2	A	T	1: 173,102,145 (GRCm39)	Y181*	probably null	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,089,266 (GRCm39)	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,345,891 (GRCm39)	F814L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Oit3	T	G	10: 59,266,835 (GRCm39)	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pacs2	C	T	12: 113,024,731 (GRCm39)	T407I	probably damaging	Het
Pard6g	T	C	18: 80,160,940 (GRCm39)	I351T	probably benign	Het
Pdcl2	A	T	5: 76,472,838 (GRCm39)		probably null	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Phip	T	A	9: 82,757,352 (GRCm39)	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,739,681 (GRCm39)	S10*	probably null	Het
Pramel24	T	G	4: 143,453,472 (GRCm39)	Y193*	probably null	Het
Prdm1	C	T	10: 44,317,408 (GRCm39)	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,477,561 (GRCm39)	V320A	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rere	C	A	4: 150,699,047 (GRCm39)		probably benign	Het
Rint1	T	C	5: 24,015,927 (GRCm39)	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,351,210 (GRCm39)	Q446R	possibly damaging	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Snrnp200	A	G	2: 127,054,323 (GRCm39)	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,079,803 (GRCm39)	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Spin1	T	C	13: 51,298,573 (GRCm39)		probably null	Het
St14	T	A	9: 31,002,669 (GRCm39)	I745F	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tlcd3b	T	C	7: 126,419,012 (GRCm39)	L4P	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193 (GRCm39)	E414G	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het
Wwc2	T	C	8: 48,321,356 (GRCm39)	D586G	unknown	Het
Zfp106	T	C	2: 120,354,010 (GRCm39)	H1490R	probably benign	Het
Zswim5	T	C	4: 116,837,109 (GRCm39)	V731A	probably benign	Het
Zyg11b	G	C	4: 108,108,016 (GRCm39)	N463K	possibly damaging	Het

Other mutations in Armh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Armh3	APN	19	45,928,927 (GRCm39)	missense	probably benign	0.19
IGL00788:Armh3	APN	19	45,920,789 (GRCm39)	critical splice donor site	probably null
IGL01356:Armh3	APN	19	45,954,742 (GRCm39)	missense	possibly damaging	0.94
IGL01477:Armh3	APN	19	45,967,043 (GRCm39)	missense	probably damaging	0.99
IGL01660:Armh3	APN	19	45,928,915 (GRCm39)	missense	probably damaging	1.00
IGL02193:Armh3	APN	19	45,961,323 (GRCm39)	missense	probably benign	0.02
IGL02863:Armh3	APN	19	45,946,850 (GRCm39)	missense	probably damaging	1.00
IGL03108:Armh3	APN	19	45,808,792 (GRCm39)	missense	probably damaging	0.99
R0035:Armh3	UTSW	19	45,879,679 (GRCm39)	missense	probably damaging	1.00
R0791:Armh3	UTSW	19	45,922,307 (GRCm39)	splice site	probably null
R0792:Armh3	UTSW	19	45,922,307 (GRCm39)	splice site	probably null
R1487:Armh3	UTSW	19	45,928,882 (GRCm39)	critical splice donor site	probably null
R1843:Armh3	UTSW	19	45,963,691 (GRCm39)	missense	probably benign	0.17
R2061:Armh3	UTSW	19	45,967,106 (GRCm39)	missense	probably damaging	1.00
R2072:Armh3	UTSW	19	45,953,820 (GRCm39)	missense	probably damaging	0.99
R2073:Armh3	UTSW	19	45,953,820 (GRCm39)	missense	probably damaging	0.99
R2074:Armh3	UTSW	19	45,953,820 (GRCm39)	missense	probably damaging	0.99
R2091:Armh3	UTSW	19	45,941,119 (GRCm39)	missense	probably damaging	1.00
R2263:Armh3	UTSW	19	45,920,788 (GRCm39)	critical splice donor site	probably null
R2863:Armh3	UTSW	19	45,874,396 (GRCm39)	missense	probably damaging	1.00
R3236:Armh3	UTSW	19	45,963,722 (GRCm39)	splice site	probably benign
R3796:Armh3	UTSW	19	45,910,049 (GRCm39)	splice site	probably benign
R4044:Armh3	UTSW	19	45,808,763 (GRCm39)	missense	probably damaging	1.00
R4716:Armh3	UTSW	19	45,948,781 (GRCm39)	missense	probably damaging	1.00
R4974:Armh3	UTSW	19	45,808,726 (GRCm39)	missense	probably damaging	1.00
R4983:Armh3	UTSW	19	45,939,146 (GRCm39)	missense	probably benign
R5063:Armh3	UTSW	19	45,874,394 (GRCm39)	missense	possibly damaging	0.95
R5313:Armh3	UTSW	19	45,807,414 (GRCm39)	missense	probably damaging	1.00
R5782:Armh3	UTSW	19	45,874,466 (GRCm39)	missense	probably benign	0.08
R5985:Armh3	UTSW	19	45,808,763 (GRCm39)	missense	probably damaging	1.00
R6220:Armh3	UTSW	19	45,834,554 (GRCm39)	missense	possibly damaging	0.79
R6379:Armh3	UTSW	19	45,910,136 (GRCm39)	missense	possibly damaging	0.46
R6674:Armh3	UTSW	19	45,963,437 (GRCm39)	missense	probably benign	0.06
R6842:Armh3	UTSW	19	45,807,416 (GRCm39)	missense	probably benign	0.05
R6890:Armh3	UTSW	19	45,948,796 (GRCm39)	missense	probably damaging	1.00
R7034:Armh3	UTSW	19	45,953,688 (GRCm39)	missense	probably damaging	0.98
R7036:Armh3	UTSW	19	45,953,688 (GRCm39)	missense	probably damaging	0.98
R7305:Armh3	UTSW	19	45,880,560 (GRCm39)	missense	probably benign	0.35
R7411:Armh3	UTSW	19	45,953,874 (GRCm39)	missense	probably benign	0.00
R7762:Armh3	UTSW	19	45,928,882 (GRCm39)	critical splice donor site	probably null
R8021:Armh3	UTSW	19	45,945,180 (GRCm39)	critical splice acceptor site	probably null
R8366:Armh3	UTSW	19	45,920,793 (GRCm39)	missense	probably damaging	1.00
R9336:Armh3	UTSW	19	45,945,120 (GRCm39)	missense	probably damaging	1.00
X0060:Armh3	UTSW	19	45,920,832 (GRCm39)	missense	possibly damaging	0.95
Z1088:Armh3	UTSW	19	45,807,344 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCCAACTACACAGTCTTTTG -3'
(R):5'- AGTTTTCAGAGCACACTGATTGG -3'

Sequencing Primer
(F):5'- ACACAGTCTTTTGTAGCATTTTCCTG -3'
(R):5'- TTTCAGAGCACACTGATTGGAGGTAG -3'

Posted On

2014-09-17