Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Ajm1'

557778

Institutional Source

Beutler Lab

Gene Symbol

Ajm1

Ensembl Gene

ENSMUSG00000029419

Gene Name

apical junction component 1

Synonyms

Gm996, LOC381353

MMRRC Submission

045331-MU

Accession Numbers

Essential gene?

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

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25465428-25471760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25468579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 444 (H444L)

Ref Sequence

ENSEMBL: ENSMUSP00000109855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000058137] [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

probably benign
Transcript: ENSMUST00000058137

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087

Domain	Start	End	E-Value	Type
Pfam:Ras	45	108	1.5e-7	PFAM
Pfam:Roc	45	112	2.2e-8	PFAM
low complexity region	232	245	N/A	INTRINSIC
low complexity region	291	325	N/A	INTRINSIC
low complexity region	343	364	N/A	INTRINSIC
low complexity region	378	397	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
coiled coil region	653	669	N/A	INTRINSIC
low complexity region	708	720	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114217
AA Change: H444L

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

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: H444L

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: H444L

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

SMART Domains

Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: H444L

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: H444L

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

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: H444L

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	G	A	13: 12,293,847 (GRCm39)	H558Y	probably damaging	Het
Akap9	G	C	5: 4,110,364 (GRCm39)	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,175,011 (GRCm39)	R710C	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Carmil3	A	G	14: 55,738,739 (GRCm39)	E844G	probably damaging	Het
Cdk17	T	G	10: 93,068,343 (GRCm39)	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656 (GRCm39)	M253L	probably benign	Het
Chd3	T	G	11: 69,253,132 (GRCm39)	K228Q	probably damaging	Het
Cit	T	A	5: 116,123,846 (GRCm39)	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Czib	C	A	4: 107,752,087 (GRCm39)	D155E	not run	Het
Degs1	A	G	1: 182,106,690 (GRCm39)	S226P	probably damaging	Het
Espl1	T	C	15: 102,221,638 (GRCm39)	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218 (GRCm39)	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944 (GRCm38)		probably null	Het
Gnptab	T	A	10: 88,269,932 (GRCm39)	Y878*	probably null	Het
Gpr89	A	T	3: 96,778,714 (GRCm39)	M453K	probably benign	Het
Igsf5	A	T	16: 96,174,048 (GRCm39)	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,297,995 (GRCm39)	D202V	possibly damaging	Het
Itga3	C	T	11: 94,943,305 (GRCm39)	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,222,184 (GRCm39)		probably null	Het
Klk4	T	C	7: 43,531,122 (GRCm39)	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,567,169 (GRCm39)	L206P	probably damaging	Het
Manba	A	T	3: 135,248,149 (GRCm39)	N346I	probably damaging	Het
Map4k4	T	C	1: 40,013,132 (GRCm39)	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Masp2	A	G	4: 148,694,572 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,661,933 (GRCm39)	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,241,235 (GRCm39)	S254T	possibly damaging	Het
Myo16	A	T	8: 10,619,585 (GRCm39)	T1379S	unknown	Het
Myo5a	A	G	9: 75,087,435 (GRCm39)	E1097G	probably benign	Het
Nat1	T	C	8: 67,944,329 (GRCm39)	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,580,931 (GRCm39)	D493G	probably damaging	Het
Or10ak9	C	T	4: 118,726,922 (GRCm39)	P315S	probably benign	Het
Or1j21	T	C	2: 36,683,709 (GRCm39)	S154P	probably benign	Het
Or5ae2	A	G	7: 84,506,251 (GRCm39)	I227V	possibly damaging	Het
Or5b108	A	T	19: 13,168,270 (GRCm39)	M80L	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,176 (GRCm39)	K52E	probably damaging	Het
Or8g51	A	G	9: 38,609,515 (GRCm39)	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,429,349 (GRCm39)	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,169,222 (GRCm39)	D88G	probably benign	Het
Pld5	A	T	1: 176,041,187 (GRCm39)	M1K	probably null	Het
Prmt6	A	G	3: 110,157,680 (GRCm39)	M203T	probably benign	Het
Prr14l	A	T	5: 32,986,510 (GRCm39)	V995D	probably damaging	Het
Psg18	T	C	7: 18,084,862 (GRCm39)	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,552,815 (GRCm39)	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711 (GRCm39)	S154P	probably benign	Het
Slco1c1	T	A	6: 141,487,855 (GRCm39)	Y192*	probably null	Het
Spag16	A	G	1: 70,764,025 (GRCm39)	H615R	possibly damaging	Het
Spata31h1	G	A	10: 82,122,063 (GRCm39)	T3649I	probably damaging	Het
Tas2r114	G	A	6: 131,666,728 (GRCm39)	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,264,544 (GRCm39)	S103P	probably benign	Het
Usp10	T	C	8: 120,668,847 (GRCm39)	S383P	probably damaging	Het
Vmn2r113	A	G	17: 23,167,137 (GRCm39)	R505G	probably benign	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Zfp318	T	A	17: 46,708,232 (GRCm39)		probably null	Het
Zfp318	T	C	17: 46,716,865 (GRCm39)	V999A	probably damaging	Het
Zfp324	A	T	7: 12,702,810 (GRCm39)	H58L	probably damaging	Het
Zfp707	A	G	15: 75,846,967 (GRCm39)	E339G	possibly damaging	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
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
R9253:Ajm1	UTSW	2	25,467,172 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TAATCTCTGGCGTGACGTACC -3'
(R):5'- ATGTACTGGCTCGGACTTACC -3'

Sequencing Primer
(F):5'- CTGGCGTGACGTACCAGTTG -3'
(R):5'- GGACTTACCCGCACCCG -3'

Posted On

2019-06-26