Mutagenetix > Incidental Mutation

Incidental Mutation 'R7783:Ajm1'

599353

Institutional Source

Beutler Lab

Gene Symbol

Ajm1

Ensembl Gene

ENSMUSG00000029419

Gene Name

apical junction component 1

Synonyms

Gm996, LOC381353

MMRRC Submission

045839-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7783 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25465428-25471760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25467820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 697 (L697Q)

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

probably damaging
Transcript: ENSMUST00000114217
AA Change: L697Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: L697Q

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

probably damaging
Transcript: ENSMUST00000188161
AA Change: L697Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: L697Q

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 damaging
Transcript: ENSMUST00000191602
AA Change: L697Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: L697Q

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: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,875 (GRCm39)	Y447*	probably null	Het
Abl2	T	C	1: 156,386,641 (GRCm39)	V8A	probably benign	Het
Adam33	C	T	2: 130,900,257 (GRCm39)	R103K	unknown	Het
Adamts13	G	T	2: 26,880,597 (GRCm39)	A727S	not run	Het
Alpk2	A	T	18: 65,439,325 (GRCm39)	C689*	probably null	Het
Amt	C	T	9: 108,174,414 (GRCm39)	Q60*	probably null	Het
Ankrd12	A	G	17: 66,334,245 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,428,770 (GRCm39)	N920K	probably damaging	Het
Ankrd36	T	C	11: 5,585,359 (GRCm39)	L390P	probably damaging	Het
Arvcf	T	G	16: 18,207,063 (GRCm39)	H7Q	probably benign	Het
Asns	A	G	6: 7,677,978 (GRCm39)	S367P	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
C7	T	A	15: 5,037,192 (GRCm39)	H562L	probably benign	Het
Ccdc77	T	C	6: 120,327,334 (GRCm39)	D37G	probably damaging	Het
Cdc14a	C	T	3: 116,198,236 (GRCm39)	A58T	probably damaging	Het
Cdc42bpb	C	T	12: 111,302,459 (GRCm39)		probably null	Het
Cilk1	G	T	9: 78,042,927 (GRCm39)	V51F	probably damaging	Het
Corin	A	T	5: 72,458,967 (GRCm39)	F1068L	probably benign	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Ercc3	T	A	18: 32,381,296 (GRCm39)	S371T	probably damaging	Het
Fam193a	A	C	5: 34,588,524 (GRCm39)	K358Q	probably damaging	Het
Fem1a	G	A	17: 56,564,522 (GRCm39)	C205Y	probably benign	Het
Fh1	G	A	1: 175,439,744 (GRCm39)	T233M	probably damaging	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gabra6	T	C	11: 42,207,289 (GRCm39)	N265S	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Grm6	T	A	11: 50,753,909 (GRCm39)	C738S	probably damaging	Het
Gtsf1	C	T	15: 103,336,996 (GRCm39)		probably benign	Het
Hcrtr2	T	A	9: 76,140,196 (GRCm39)	Y364F	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,336 (GRCm39)	I374V	probably benign	Het
Il31ra	A	T	13: 112,677,785 (GRCm39)	F250L	probably benign	Het
Iqgap1	A	G	7: 80,458,807 (GRCm39)	V37A	probably benign	Het
Izumo3	A	T	4: 92,033,260 (GRCm39)	I182K	probably damaging	Het
Kidins220	G	A	12: 25,038,555 (GRCm39)	A36T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,236 (GRCm39)	R231L	probably damaging	Het
Mical2	A	T	7: 112,012,183 (GRCm39)	S678C	probably damaging	Het
Mme	T	G	3: 63,272,288 (GRCm39)	F629C	probably damaging	Het
Muc5b	T	A	7: 141,411,078 (GRCm39)	H1341Q	unknown	Het
Or13a28	A	G	7: 140,217,637 (GRCm39)	T8A	possibly damaging	Het
Or13p5	T	A	4: 118,592,099 (GRCm39)	D124E	probably damaging	Het
Or2y1e	A	G	11: 49,219,029 (GRCm39)	S264G	probably benign	Het
Or5e1	A	T	7: 108,354,776 (GRCm39)	T238S	probably damaging	Het
Or5p70	A	G	7: 107,995,296 (GRCm39)	H323R	probably benign	Het
Parm1	A	T	5: 91,741,724 (GRCm39)	M31L	probably benign	Het
Pcdhb18	G	A	18: 37,622,874 (GRCm39)	C68Y	probably benign	Het
Pkn3	A	T	2: 29,969,634 (GRCm39)	E35V	probably damaging	Het
Pla2g4a	A	T	1: 149,748,495 (GRCm39)	Y238N	probably damaging	Het
Pld6	T	C	11: 59,678,097 (GRCm39)	D122G	probably damaging	Het
Prag1	G	T	8: 36,570,409 (GRCm39)	A331S	possibly damaging	Het
Rbm44	A	G	1: 91,096,551 (GRCm39)	D970G	probably benign	Het
Rps6kc1	A	G	1: 190,505,851 (GRCm39)	V1037A	probably benign	Het
Slc12a7	T	C	13: 73,953,588 (GRCm39)	V766A	probably benign	Het
Spata18	A	G	5: 73,825,953 (GRCm39)	T87A		Het
St3gal3	T	C	4: 117,797,320 (GRCm39)	M308V	probably benign	Het
Stx19	T	C	16: 62,642,649 (GRCm39)	L155S	probably benign	Het
Tespa1	A	T	10: 130,192,752 (GRCm39)	T145S	probably damaging	Het
Timm21	A	C	18: 84,965,846 (GRCm39)	F221V	possibly damaging	Het
Tlr1	A	T	5: 65,082,264 (GRCm39)	F771Y	probably damaging	Het
Tmem150a	C	A	6: 72,335,606 (GRCm39)	L125I	unknown	Het
Try4	T	C	6: 41,279,229 (GRCm39)	L4P	possibly damaging	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Txndc16	A	T	14: 45,382,417 (GRCm39)	N609K	probably benign	Het
Upf1	T	C	8: 70,805,508 (GRCm39)	T46A	probably benign	Het
Zfp266	T	C	9: 20,411,626 (GRCm39)	N184D	probably benign	Het
Zfp407	A	G	18: 84,228,047 (GRCm39)	V1854A	possibly damaging	Het
Zfp626	T	A	7: 27,517,795 (GRCm39)	C259S	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
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
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'- CCAAAGCGTAGGAAGTTGTCG -3'
(R):5'- AGGTTTAGGCCGCCAACTAC -3'

Sequencing Primer
(F):5'- AAGTTGTCGGCAGAGCC -3'
(R):5'- TGGCAGCACTGAAGAGCC -3'

Posted On

2019-11-26