Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02903:Jkampl'

363703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jkampl

Ensembl Gene

ENSMUSG00000056197

Gene Name

JNK1/MAPK8 associated membrane protein like

Synonyms

4931417E11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

73445563-73446621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73446103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 149 (Y149H)

Ref Sequence

ENSEMBL: ENSMUSP00000068770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070163]

AlphaFold

Q9CR05

Predicted Effect

probably damaging
Transcript: ENSMUST00000070163
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068770
Gene: ENSMUSG00000056197
AA Change: Y149H

Domain	Start	End	E-Value	Type
Pfam:DUF766	3	294	3.1e-113	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205241

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	G	6: 116,397,296 (GRCm39)	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004 (GRCm39)	E301K	probably damaging	Het
Astn1	A	G	1: 158,516,120 (GRCm39)	S1237G	probably damaging	Het
Atf6	G	A	1: 170,627,283 (GRCm39)	P394S	probably benign	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C4bp	G	A	1: 130,583,722 (GRCm39)	T82I	probably damaging	Het
Cask	A	T	X: 13,418,686 (GRCm39)		probably benign	Het
Cenpf	A	T	1: 189,379,073 (GRCm39)	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,542,828 (GRCm39)	F103L	probably benign	Het
Chrnb3	A	T	8: 27,876,834 (GRCm39)	T83S	probably damaging	Het
Cmtr2	A	G	8: 110,949,510 (GRCm39)	T607A	probably benign	Het
Cplane1	G	T	15: 8,299,262 (GRCm39)	R3150M	unknown	Het
Cplane1	G	T	15: 8,299,263 (GRCm39)	R3150S	unknown	Het
Cts7	A	T	13: 61,504,440 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,307 (GRCm39)	Y514N	possibly damaging	Het
Dmrtc1b	T	A	X: 101,757,173 (GRCm39)	L206Q	probably benign	Het
Dus3l	C	T	17: 57,075,363 (GRCm39)	L397F	probably damaging	Het
Gm6356	C	T	14: 6,973,735 (GRCm38)	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,235,970 (GRCm39)		probably null	Het
Kcmf1	A	T	6: 72,835,866 (GRCm39)	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,648,480 (GRCm39)	T75S	possibly damaging	Het
Lemd2	A	G	17: 27,412,184 (GRCm39)		probably benign	Het
Magee1	G	T	X: 104,166,945 (GRCm39)	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,307,092 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	A	10: 39,823,639 (GRCm39)	E207V	possibly damaging	Het
Or2ag15	A	G	7: 106,340,917 (GRCm39)	S75P	probably damaging	Het
Or7a38	A	G	10: 78,753,250 (GRCm39)	D192G	probably damaging	Het
Pappa	T	C	4: 65,180,217 (GRCm39)	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,953,870 (GRCm39)	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,883,387 (GRCm39)	L45Q	probably benign	Het
Pramel23	A	T	4: 143,425,736 (GRCm39)	M69K	probably benign	Het
Ptprq	T	C	10: 107,502,447 (GRCm39)	T824A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,861 (GRCm39)	T574A	probably benign	Het
Rsbn1	T	C	3: 103,835,885 (GRCm39)	S308P	probably damaging	Het
Shisal2b	T	A	13: 105,000,118 (GRCm39)	Y35F	probably benign	Het
Smr2	A	T	5: 88,256,489 (GRCm39)	I56F	probably benign	Het
Wdfy4	C	T	14: 32,831,607 (GRCm39)	R873H	probably damaging	Het

Other mutations in Jkampl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01566:Jkampl	APN	6	73,445,673 (GRCm39)	missense	probably damaging	1.00
IGL01768:Jkampl	APN	6	73,445,899 (GRCm39)	missense	possibly damaging	0.83
R0084:Jkampl	UTSW	6	73,445,918 (GRCm39)	nonsense	probably null
R0123:Jkampl	UTSW	6	73,446,402 (GRCm39)	missense	possibly damaging	0.49
R0225:Jkampl	UTSW	6	73,446,402 (GRCm39)	missense	possibly damaging	0.49
R1478:Jkampl	UTSW	6	73,446,039 (GRCm39)	missense	probably damaging	1.00
R1640:Jkampl	UTSW	6	73,445,869 (GRCm39)	missense	probably benign	0.13
R4616:Jkampl	UTSW	6	73,446,252 (GRCm39)	missense	probably benign	0.02
R5451:Jkampl	UTSW	6	73,445,850 (GRCm39)	missense	probably benign	0.00
R5875:Jkampl	UTSW	6	73,446,028 (GRCm39)	missense	possibly damaging	0.50
R5911:Jkampl	UTSW	6	73,445,674 (GRCm39)	missense	probably damaging	0.99
R6784:Jkampl	UTSW	6	73,445,918 (GRCm39)	nonsense	probably null
R6982:Jkampl	UTSW	6	73,446,527 (GRCm39)	nonsense	probably null
R7990:Jkampl	UTSW	6	73,446,528 (GRCm39)	missense	probably damaging	1.00
R8365:Jkampl	UTSW	6	73,446,329 (GRCm39)	missense	probably benign	0.02
R8381:Jkampl	UTSW	6	73,445,895 (GRCm39)	missense	probably damaging	1.00
R9098:Jkampl	UTSW	6	73,446,517 (GRCm39)	missense	probably benign	0.18
R9363:Jkampl	UTSW	6	73,446,487 (GRCm39)	missense	possibly damaging	0.54
X0024:Jkampl	UTSW	6	73,446,033 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18