Mutagenetix > Incidental Mutation

Incidental Mutation 'R9363:Jkampl'

708784

Institutional Source

Beutler Lab

Gene Symbol

Jkampl

Ensembl Gene

ENSMUSG00000056197

Gene Name

JNK1/MAPK8 associated membrane protein like

Synonyms

4931417E11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R9363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73445563-73446621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73446487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 21 (I21F)

Ref Sequence

ENSEMBL: ENSMUSP00000068770 (fasta)

Gene Model

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

AlphaFold

Q9CR05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070163
AA Change: I21F

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068770
Gene: ENSMUSG00000056197
AA Change: I21F

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

Coding Region Coverage

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

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Alkbh1	A	T	12: 87,487,080 (GRCm39)	Y96*	probably null	Het
Alkbh8	T	A	9: 3,385,576 (GRCm39)	C658S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Blm	T	C	7: 80,108,663 (GRCm39)	Y1327C	probably damaging	Het
Ccdc28a	C	T	10: 18,094,050 (GRCm39)	D190N	unknown	Het
Chdh	A	G	14: 29,753,310 (GRCm39)	E73G	probably damaging	Het
Dab2	C	T	15: 6,460,481 (GRCm39)	P463L	probably benign	Het
Dcun1d2	A	G	8: 13,309,014 (GRCm39)	Y184H	probably benign	Het
Dst	T	C	1: 34,235,060 (GRCm39)	L3535P	probably damaging	Het
Egr3	A	G	14: 70,316,761 (GRCm39)	I153V	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Hcfc2	C	T	10: 82,574,258 (GRCm39)	P144L	probably damaging	Het
Mdc1	C	A	17: 36,162,019 (GRCm39)	Q942K	probably benign	Het
Med15	C	T	16: 17,489,414 (GRCm39)	V387I	unknown	Het
Muc4	C	T	16: 32,576,992 (GRCm39)	S94L		Het
Or5ak23	T	A	2: 85,244,993 (GRCm39)	I77F	probably damaging	Het
Otud3	G	T	4: 138,623,133 (GRCm39)	N369K	probably benign	Het
Parp14	C	T	16: 35,678,586 (GRCm39)	E461K	possibly damaging	Het
Paxbp1	T	A	16: 90,827,395 (GRCm39)	Q480L	probably damaging	Het
Polr3a	G	A	14: 24,500,831 (GRCm39)	A1319V	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prkg2	A	T	5: 99,172,257 (GRCm39)	S153T	probably benign	Het
Scara3	T	C	14: 66,168,720 (GRCm39)	D299G	probably benign	Het
Scube1	C	A	15: 83,499,080 (GRCm39)	E712*	probably null	Het
Setd4	T	A	16: 93,388,009 (GRCm39)	E159V	probably benign	Het
Slc15a2	T	A	16: 36,572,672 (GRCm39)	I670F	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Snx18	G	A	13: 113,754,732 (GRCm39)	P67L	probably benign	Het
St3gal5	A	T	6: 72,119,301 (GRCm39)	K165*	probably null	Het
Sun5	A	G	2: 153,700,365 (GRCm39)	I294T	probably benign	Het
Svil	A	G	18: 5,037,155 (GRCm39)	K37E	probably benign	Het
Tmem104	T	C	11: 115,134,691 (GRCm39)	I409T	probably benign	Het
Tnxb	T	C	17: 34,917,294 (GRCm39)	Y2230H	possibly damaging	Het
Trps1	A	G	15: 50,524,676 (GRCm39)	S1085P	probably damaging	Het
Ttn	A	T	2: 76,612,592 (GRCm39)	N17162K	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,616 (GRCm39)	F258L	probably damaging	Het
Vmn2r102	C	T	17: 19,897,614 (GRCm39)	H210Y	probably benign	Het
Vmn2r75	A	T	7: 85,815,423 (GRCm39)	V147E	probably benign	Het
Zhx3	G	A	2: 160,621,785 (GRCm39)	A794V	probably benign	Het
Zscan2	A	G	7: 80,525,331 (GRCm39)	T351A	probably benign	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
IGL02903:Jkampl	APN	6	73,446,103 (GRCm39)	missense	probably damaging	1.00
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
X0024:Jkampl	UTSW	6	73,446,033 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCCATGCTGCATTCTAATAGC -3'
(R):5'- GCTTCAGAATGATTGCCCAGG -3'

Sequencing Primer
(F):5'- GCATTCTAATAGCGCAGAGACTTGC -3'
(R):5'- TTCAGAATGATTGCCCAGGATACC -3'

Posted On

2022-04-18