Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Ajm1'

701638

Institutional Source

Beutler Lab

Gene Symbol

Ajm1

Ensembl Gene

ENSMUSG00000029419

Gene Name

apical junction component 1

Synonyms

Gm996, LOC381353

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25465428-25471760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25467172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 913 (H913R)

Ref Sequence

ENSEMBL: ENSMUSP00000109855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000114217] [ENSMUST00000187017] [ENSMUST00000188161] [ENSMUST00000191602]

AlphaFold

A2AJA9

Predicted Effect

probably benign
Transcript: ENSMUST00000039156

SMART Domains

Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504

Domain	Start	End	E-Value	Type
Pfam:Ocnus	5	116	1e-44	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114217
AA Change: H913R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: H913R

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188161
AA Change: H913R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: H913R

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191602
AA Change: H913R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: H913R

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Adh4	A	T	3: 138,129,860 (GRCm39)	I229F	probably damaging	Het
Aldh3b1	T	A	19: 3,965,315 (GRCm39)	S399C	probably damaging	Het
Arhgef28	C	T	13: 98,124,779 (GRCm39)	G501D	probably benign	Het
Asb1	C	A	1: 91,468,551 (GRCm39)	T6N	unknown	Het
Asb18	C	T	1: 89,882,185 (GRCm39)	V382I	probably benign	Het
AU041133	T	C	10: 81,987,220 (GRCm39)	I291T	probably benign	Het
B4galnt2	C	T	11: 95,759,176 (GRCm39)		silent	Het
Bcl7c	T	C	7: 127,306,403 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,711,083 (GRCm39)	N375S	possibly damaging	Het
C6	A	G	15: 4,764,679 (GRCm39)	Q125R	probably benign	Het
Card14	T	C	11: 119,212,759 (GRCm39)	S108P	probably benign	Het
Clec4a2	C	A	6: 123,100,608 (GRCm39)	T21N	probably damaging	Het
Cntnap2	C	T	6: 45,978,112 (GRCm39)	L256F	probably benign	Het
Cobll1	G	A	2: 64,981,503 (GRCm39)	T29I	probably benign	Het
Coq4	A	T	2: 29,685,433 (GRCm39)	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698 (GRCm39)	L91S	probably benign	Het
Fat2	T	A	11: 55,201,397 (GRCm39)	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 100,836,917 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,676,407 (GRCm39)	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,378 (GRCm39)	S146P	probably damaging	Het
Heatr5b	A	G	17: 79,135,423 (GRCm39)	V236A	probably benign	Het
Hjv	T	C	3: 96,435,710 (GRCm39)	S323P	probably benign	Het
Hmgcr	C	T	13: 96,796,645 (GRCm39)	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,789,632 (GRCm39)	A57S	probably benign	Het
Lilrb4b	G	A	10: 51,357,863 (GRCm39)	V186I	probably damaging	Het
Map1a	T	C	2: 121,132,823 (GRCm39)	V1213A	probably benign	Het
Marf1	T	C	16: 13,935,172 (GRCm39)	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,279,264 (GRCm39)	Y174C	probably damaging	Het
Miga2	T	A	2: 30,261,239 (GRCm39)	V178E	probably benign	Het
Myh11	T	A	16: 14,074,359 (GRCm39)	I174F		Het
Ndufv1	G	T	19: 4,059,412 (GRCm39)	A211E	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrp1	T	C	8: 129,229,144 (GRCm39)	V874A	possibly damaging	Het
Nsf	C	T	11: 103,804,142 (GRCm39)	G197S	probably null	Het
Or10al2	A	T	17: 37,983,637 (GRCm39)	H241L	probably benign	Het
Or2t26	T	C	11: 49,039,822 (GRCm39)	M246T	probably damaging	Het
Pacs2	A	G	12: 113,014,137 (GRCm39)	D196G	probably benign	Het
Pbxip1	A	G	3: 89,351,012 (GRCm39)	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,554,529 (GRCm39)		probably benign	Het
Pgk2	C	T	17: 40,519,233 (GRCm39)	G65D	probably damaging	Het
Plcd3	T	C	11: 102,970,460 (GRCm39)	D193G	probably benign	Het
Plcl2	T	G	17: 50,915,127 (GRCm39)	M712R	probably damaging	Het
Plxna1	G	A	6: 89,334,522 (GRCm39)	Q36*	probably null	Het
Plxnb2	A	G	15: 89,052,015 (GRCm39)	V68A	probably benign	Het
Polr2b	A	G	5: 77,493,224 (GRCm39)	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,111,973 (GRCm39)	T200A	probably benign	Het
Rspry1	T	A	8: 95,349,621 (GRCm39)	V3D	probably damaging	Het
Serpinb6d	T	C	13: 33,855,205 (GRCm39)	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,680,913 (GRCm39)	R72G	probably benign	Het
Smarca5	A	C	8: 81,446,344 (GRCm39)	L452W	probably damaging	Het
Srcin1	T	C	11: 97,416,377 (GRCm39)	K952E	probably damaging	Het
Synpo2l	G	T	14: 20,716,738 (GRCm39)	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,773,803 (GRCm39)	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,930,644 (GRCm39)	T206A	probably damaging	Het
Ttn	T	A	2: 76,562,951 (GRCm39)	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,645,817 (GRCm39)	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,960 (GRCm39)	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,129,582 (GRCm39)	S824R	probably damaging	Het
Vps54	G	A	11: 21,258,771 (GRCm39)	V733I	probably benign	Het
Zfp518b	G	T	5: 38,829,601 (GRCm39)	D801E	probably benign	Het
Zgrf1	C	A	3: 127,392,428 (GRCm39)	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,739,463 (GRCm39)		probably benign	Het

Other mutations in Ajm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Ajm1	APN	2	25,469,419 (GRCm39)	missense	probably damaging	0.97
IGL01370:Ajm1	APN	2	25,468,969 (GRCm39)	missense	possibly damaging	0.82
IGL01973:Ajm1	APN	2	25,469,584 (GRCm39)	nonsense	probably null
IGL01987:Ajm1	APN	2	25,467,970 (GRCm39)	missense	possibly damaging	0.82
IGL02534:Ajm1	APN	2	25,467,043 (GRCm39)	nonsense	probably null
R0457:Ajm1	UTSW	2	25,468,358 (GRCm39)	missense	possibly damaging	0.66
R0799:Ajm1	UTSW	2	25,468,574 (GRCm39)	missense	possibly damaging	0.83
R0931:Ajm1	UTSW	2	25,468,501 (GRCm39)	missense	possibly damaging	0.82
R1243:Ajm1	UTSW	2	25,468,570 (GRCm39)	missense	possibly damaging	0.66
R1477:Ajm1	UTSW	2	25,469,765 (GRCm39)	missense	possibly damaging	0.66
R1559:Ajm1	UTSW	2	25,467,043 (GRCm39)	nonsense	probably null
R1661:Ajm1	UTSW	2	25,469,167 (GRCm39)	missense	possibly damaging	0.90
R1796:Ajm1	UTSW	2	25,468,000 (GRCm39)	missense	probably damaging	1.00
R3955:Ajm1	UTSW	2	25,467,583 (GRCm39)	nonsense	probably null
R4005:Ajm1	UTSW	2	25,468,868 (GRCm39)	missense	probably benign	0.01
R4342:Ajm1	UTSW	2	25,469,120 (GRCm39)	missense	possibly damaging	0.92
R4579:Ajm1	UTSW	2	25,469,661 (GRCm39)	missense	possibly damaging	0.66
R4621:Ajm1	UTSW	2	25,468,412 (GRCm39)	missense	probably damaging	0.96
R4770:Ajm1	UTSW	2	25,469,759 (GRCm39)	missense	possibly damaging	0.94
R4834:Ajm1	UTSW	2	25,469,530 (GRCm39)	missense	possibly damaging	0.82
R4860:Ajm1	UTSW	2	25,468,765 (GRCm39)	missense	probably damaging	0.99
R4860:Ajm1	UTSW	2	25,468,765 (GRCm39)	missense	probably damaging	0.99
R4887:Ajm1	UTSW	2	25,469,759 (GRCm39)	missense	possibly damaging	0.94
R4888:Ajm1	UTSW	2	25,469,759 (GRCm39)	missense	possibly damaging	0.94
R5472:Ajm1	UTSW	2	25,469,714 (GRCm39)	missense	probably benign
R5632:Ajm1	UTSW	2	25,469,276 (GRCm39)	missense	probably benign
R6816:Ajm1	UTSW	2	25,469,733 (GRCm39)	frame shift	probably null
R6818:Ajm1	UTSW	2	25,469,733 (GRCm39)	frame shift	probably null
R6861:Ajm1	UTSW	2	25,469,733 (GRCm39)	frame shift	probably null
R7164:Ajm1	UTSW	2	25,468,579 (GRCm39)	missense	possibly damaging	0.66
R7543:Ajm1	UTSW	2	25,467,410 (GRCm39)	missense	possibly damaging	0.81
R7748:Ajm1	UTSW	2	25,468,971 (GRCm39)	missense	possibly damaging	0.46
R7783:Ajm1	UTSW	2	25,467,820 (GRCm39)	missense	probably damaging	0.97
R7826:Ajm1	UTSW	2	25,468,477 (GRCm39)	missense	possibly damaging	0.66
R8117:Ajm1	UTSW	2	25,469,246 (GRCm39)	missense	probably benign	0.27
R8694:Ajm1	UTSW	2	25,469,831 (GRCm39)	missense	possibly damaging	0.83
R8708:Ajm1	UTSW	2	25,467,814 (GRCm39)	missense	possibly damaging	0.66
R8830:Ajm1	UTSW	2	25,467,262 (GRCm39)	missense
R8904:Ajm1	UTSW	2	25,467,914 (GRCm39)	missense	probably benign	0.27
R8928:Ajm1	UTSW	2	25,468,577 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CATGATGTCGTCCAGCAGGTTG -3'
(R):5'- AGAGTGCTTCCTGCTTAGC -3'

Sequencing Primer
(F):5'- GGCGCTGGCTACCCAATCTAG -3'
(R):5'- CGCAAGTTCGCCAAGGTG -3'

Posted On

2022-03-25