Mutagenetix > Incidental Mutation

Incidental Mutation 'R5047:Gm10142'

394418

Institutional Source

Beutler Lab

Gene Symbol

Gm10142

Ensembl Gene

ENSMUSG00000094146

Gene Name

predicted gene 10142

Synonyms

MMRRC Submission

042637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77551641-77552003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77551996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 119 (C119F)

Ref Sequence

ENSEMBL: ENSMUSP00000135962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092370] [ENSMUST00000179767]

AlphaFold

J3KMP7

Predicted Effect

probably benign
Transcript: ENSMUST00000075421

SMART Domains

Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	2.6e-8	PFAM
Pfam:Keratin_B2_2	29	74	9.2e-10	PFAM
low complexity region	92	105	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092370

SMART Domains

Protein: ENSMUSP00000090024
Gene: ENSMUSG00000069583

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	42	3.1e-6	PFAM
Pfam:Keratin_B2_2	20	68	3.1e-10	PFAM
Pfam:Keratin_B2_2	39	84	3.7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179767
AA Change: C119F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146
AA Change: C119F

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	1.7e-8	PFAM
Pfam:Keratin_B2_2	29	74	1.8e-9	PFAM
low complexity region	88	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218482

Meta Mutation Damage Score

0.3942

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	A	T	14: 44,406,698 (GRCm39)	M117K	possibly damaging	Het
Adamts13	G	A	2: 26,886,922 (GRCm39)	A1020T	probably damaging	Het
Armh4	G	T	14: 50,007,895 (GRCm39)	A526D	probably damaging	Het
Atg3	C	A	16: 44,998,595 (GRCm39)	D132E	probably benign	Het
Blzf1	A	G	1: 164,134,037 (GRCm39)	M4T	possibly damaging	Het
Cdon	G	A	9: 35,389,935 (GRCm39)	R863Q	probably damaging	Het
Cyp2d40	C	T	15: 82,644,460 (GRCm39)	R255H	unknown	Het
Evi5	T	C	5: 107,969,740 (GRCm39)	K57R	probably damaging	Het
Fam186b	T	C	15: 99,178,567 (GRCm39)	E253G	probably damaging	Het
Fcgr1	A	T	3: 96,193,200 (GRCm39)	F266I	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gpr63	A	G	4: 25,008,202 (GRCm39)	S309G	probably benign	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Jmy	T	A	13: 93,578,080 (GRCm39)	H696L	possibly damaging	Het
Kif13a	T	C	13: 46,941,561 (GRCm39)	H972R	probably benign	Het
Lama1	C	T	17: 68,050,276 (GRCm39)	Q296*	probably null	Het
Lmf1	C	T	17: 25,850,812 (GRCm39)		probably benign	Het
Lpp	T	C	16: 24,790,596 (GRCm39)	C352R	probably damaging	Het
Ltbp1	T	C	17: 75,599,881 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,598,262 (GRCm39)	D807E	possibly damaging	Het
Mdc1	T	A	17: 36,158,736 (GRCm39)	V372D	probably benign	Het
Mst1	C	A	9: 107,961,508 (GRCm39)	H579Q	probably benign	Het
Or11g24	T	C	14: 50,662,696 (GRCm39)	F240S	probably damaging	Het
Or1r1	T	C	11: 73,875,204 (GRCm39)	T77A	probably damaging	Het
Or4a39	A	G	2: 89,237,057 (GRCm39)	V122A	probably damaging	Het
Or8d1	G	A	9: 38,766,585 (GRCm39)	V76I	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Phlpp2	A	T	8: 110,640,251 (GRCm39)	H472L	probably benign	Het
Plscr3	A	G	11: 69,740,917 (GRCm39)		probably null	Het
Rab7	A	T	6: 87,982,205 (GRCm39)		probably null	Het
Rad50	A	G	11: 53,565,523 (GRCm39)		probably null	Het
Scgb1b20	A	G	7: 33,072,737 (GRCm39)		probably null	Het
Scn9a	A	C	2: 66,392,824 (GRCm39)	L256R	probably damaging	Het
Spag1	G	T	15: 36,195,588 (GRCm39)	Q260H	probably damaging	Het
Tatdn3	T	A	1: 190,778,475 (GRCm39)	I239F	probably damaging	Het
Tcof1	A	G	18: 60,964,986 (GRCm39)	S578P	possibly damaging	Het
Top3b	A	G	16: 16,709,282 (GRCm39)	T657A	probably benign	Het
Tstd3	A	G	4: 21,759,621 (GRCm39)		probably null	Het
Ttc4	A	T	4: 106,525,435 (GRCm39)	L233H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,794 (GRCm39)	M158K	probably benign	Het
Yeats2	A	T	16: 20,027,215 (GRCm39)	Q822L	probably damaging	Het
Zfp976	A	T	7: 42,262,843 (GRCm39)	C331*	probably null	Het

Other mutations in Gm10142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02369:Gm10142	APN	10	77,551,947 (GRCm39)	missense	probably benign	0.07
R0244:Gm10142	UTSW	10	77,551,848 (GRCm39)	splice site	probably null
R1293:Gm10142	UTSW	10	77,551,869 (GRCm39)	missense	probably benign	0.03
R1918:Gm10142	UTSW	10	77,551,821 (GRCm39)	missense	probably benign	0.32
R5814:Gm10142	UTSW	10	77,551,957 (GRCm39)	missense	probably damaging	0.99
R8248:Gm10142	UTSW	10	77,551,950 (GRCm39)	missense	probably damaging	0.96
R8279:Gm10142	UTSW	10	77,552,001 (GRCm39)	makesense	probably null
R9681:Gm10142	UTSW	10	77,551,880 (GRCm39)	nonsense	probably null
R9685:Gm10142	UTSW	10	77,551,762 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATACCAAGTGGCCTGCTGTG -3'
(R):5'- GTAAAGAGACATTCCCAGAGCC -3'

Sequencing Primer
(F):5'- GTGCCTGTGAGCTGCAG -3'
(R):5'- AGAGCCACGGTACCCTTTCAG -3'

Posted On

2016-06-15