Mutagenetix > Incidental Mutation

Incidental Mutation 'R5989:Gm42417'

481884

Institutional Source

Beutler Lab

Gene Symbol

Gm42417

Ensembl Gene

ENSMUSG00000109510

Gene Name

predicted gene, 42417

Synonyms

MMRRC Submission

044169-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R5989 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36569274-36578510 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36571273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 183 (F183L)

Ref Sequence

ENSEMBL: ENSMUSP00000061168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001166] [ENSMUST00000054665] [ENSMUST00000097776] [ENSMUST00000191849] [ENSMUST00000193083] [ENSMUST00000194853] [ENSMUST00000207088]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001166

SMART Domains

Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	25	35	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF21	142	295	3.2e-10	PFAM
Blast:CBS	329	379	9e-12	BLAST
Pfam:CBS	388	452	6.4e-6	PFAM
Blast:cNMP	527	668	2e-38	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000054665
AA Change: F183L

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

SMART Domains

Protein: ENSMUSP00000061168
Gene: ENSMUSG00000067653
AA Change: F183L

Domain	Start	End	E-Value	Type
coiled coil region	45	74	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC
Blast:ANK	111	140	1e-9	BLAST
ANK	144	173	1.12e-3	SMART
ANK	177	206	1.4e-4	SMART
ANK	210	239	9.27e-5	SMART
ANK	243	272	7.42e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097776

SMART Domains

Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	25	35	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF21	142	300	1e-19	PFAM
Blast:CBS	329	379	9e-12	BLAST
Pfam:CBS	388	452	5.1e-6	PFAM
Blast:cNMP	527	668	1e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000191849
AA Change: F69L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510
AA Change: F69L

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	9e-9	BLAST
ANK	30	59	1.12e-3	SMART
ANK	63	92	1.4e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192037

Predicted Effect

probably damaging
Transcript: ENSMUST00000193083
AA Change: F69L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141394
Gene: ENSMUSG00000067653
AA Change: F69L

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	1e-8	BLAST
ANK	30	59	6.9e-6	SMART
ANK	63	92	8.9e-7	SMART
ANK	96	125	5.7e-7	SMART
ANK	129	158	4.6e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193991

Predicted Effect

probably damaging
Transcript: ENSMUST00000194853
AA Change: F183L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141541
Gene: ENSMUSG00000067653
AA Change: F183L

Domain	Start	End	E-Value	Type
coiled coil region	45	74	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC
Blast:ANK	111	140	2e-9	BLAST
ANK	144	173	1.12e-3	SMART
ANK	177	206	1.4e-4	SMART
ANK	210	239	7.42e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207088

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cartpt	T	A	13: 100,035,492 (GRCm39)	I109F	probably damaging	Het
Csmd3	G	A	15: 47,454,160 (GRCm39)	P3562L	possibly damaging	Het
Cyp2c40	T	C	19: 39,796,024 (GRCm39)	D118G	probably benign	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Drgx	A	G	14: 32,330,145 (GRCm39)	N116S	probably benign	Het
Ebf1	G	T	11: 44,886,998 (GRCm39)	C565F	probably damaging	Het
Ggnbp1	A	G	17: 27,248,721 (GRCm39)	R97G	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Ipcef1	A	T	10: 6,929,532 (GRCm39)	Y69*	probably null	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Mtif2	A	G	11: 29,480,098 (GRCm39)	T55A	probably damaging	Het
Nefm	A	G	14: 68,361,778 (GRCm39)	V162A	probably benign	Het
Nmral1	G	A	16: 4,536,902 (GRCm39)		probably benign	Het
Or5h23	A	T	16: 58,906,697 (GRCm39)	W50R	probably benign	Het
Panx2	T	C	15: 88,944,455 (GRCm39)	L60P	probably damaging	Het
Prkag3	T	C	1: 74,780,433 (GRCm39)	N411D	probably benign	Het
Ramacl	G	A	13: 67,056,050 (GRCm39)	M14I	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rttn	G	A	18: 88,991,750 (GRCm39)	D110N	probably damaging	Het
Sfta2	G	T	17: 35,960,672 (GRCm39)		probably benign	Het
Slc17a3	A	G	13: 24,026,411 (GRCm39)		probably benign	Het
Spem1	G	A	11: 69,711,951 (GRCm39)	P238S	possibly damaging	Het
Tmem200c	G	T	17: 69,144,431 (GRCm39)		probably benign	Het
Trpm2	A	G	10: 77,795,734 (GRCm39)	F131S	probably damaging	Het
Vps51	A	G	19: 6,126,402 (GRCm39)	S117P	probably damaging	Het
Zbtb21	G	A	16: 97,752,699 (GRCm39)	P556L	probably damaging	Het

Other mutations in Gm42417

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0497:Gm42417	UTSW	1	36,571,248 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCGATAAGGTGCTCTAGGC -3'
(R):5'- CAGACAGCTGGTGAACAAGC -3'

Sequencing Primer
(F):5'- AGGGGTGCTCCAGATCTAG -3'
(R):5'- GCTGGTGAACAAGCTGCTG -3'

Posted On

2017-06-26