Mutagenetix > Incidental Mutation

Incidental Mutation 'R1293:Gm10142'

150713

Institutional Source

Beutler Lab

Gene Symbol

Gm10142

Ensembl Gene

ENSMUSG00000094146

Gene Name

predicted gene 10142

Synonyms

MMRRC Submission

039359-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77551641-77552003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77551869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 77 (S77P)

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 benign
Transcript: ENSMUST00000179767
AA Change: S77P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146
AA Change: S77P

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

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,393,141 (GRCm39)	R289Q	probably benign	Het
Adgrl4	G	A	3: 151,213,081 (GRCm39)	E374K	probably benign	Het
Ate1	G	A	7: 129,996,455 (GRCm39)	R505C	probably benign	Het
Cntn4	T	C	6: 106,330,685 (GRCm39)	I101T	probably benign	Het
Dmtf1	T	A	5: 9,190,383 (GRCm39)		probably null	Het
Dnah17	C	A	11: 118,017,963 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,048,996 (GRCm39)	T470A	probably damaging	Het
Fam118b	A	T	9: 35,132,721 (GRCm39)	Y313N	probably damaging	Het
Kat8	T	C	7: 127,521,422 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,353,646 (GRCm39)		probably null	Het
Lrrc10	A	G	10: 116,881,838 (GRCm39)	T171A	probably benign	Het
Mcidas	A	G	13: 113,133,926 (GRCm39)	T137A	probably benign	Het
Med1	G	A	11: 98,047,862 (GRCm39)	T978I	possibly damaging	Het
Muc6	C	A	7: 141,238,255 (GRCm39)	C75F	probably damaging	Het
Olfm3	A	G	3: 114,895,579 (GRCm39)	I154V	possibly damaging	Het
Or2ag15	A	G	7: 106,341,058 (GRCm39)	C28R	probably damaging	Het
Or2y12	G	A	11: 49,426,393 (GRCm39)	C127Y	probably damaging	Het
Or5ak22	T	A	2: 85,230,697 (GRCm39)		probably null	Het
Or7g30	A	T	9: 19,352,728 (GRCm39)	E173V	probably benign	Het
Rsrc1	G	A	3: 67,263,612 (GRCm39)	R324Q	probably damaging	Het
Samd9l	G	T	6: 3,373,947 (GRCm39)	P1105T	possibly damaging	Het
Sgcb	C	A	5: 73,792,870 (GRCm39)	V311F	probably benign	Het
Siglec1	A	G	2: 130,915,451 (GRCm39)	V1380A	probably benign	Het
Spred1	C	T	2: 117,007,889 (GRCm39)	P265L	probably damaging	Het
Unc13b	T	A	4: 43,235,190 (GRCm39)	H3259Q	probably damaging	Het
Unc13c	C	T	9: 73,481,356 (GRCm39)	D1694N	probably benign	Het
Usp24	A	G	4: 106,280,750 (GRCm39)	R2355G	probably benign	Het
Vmn1r53	T	A	6: 90,201,196 (GRCm39)	N43Y	possibly damaging	Het
Wtip	T	C	7: 33,809,646 (GRCm39)	S359G	possibly damaging	Het
Zfp984	T	A	4: 147,840,398 (GRCm39)	K151M	possibly damaging	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
R1918:Gm10142	UTSW	10	77,551,821 (GRCm39)	missense	probably benign	0.32
R5047:Gm10142	UTSW	10	77,551,996 (GRCm39)	missense	probably damaging	1.00
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'- AGCCTCTACCATGTGTCACACCAG -3'
(R):5'- GGGCTTTCTAACTGCCTCATGCTG -3'

Sequencing Primer
(F):5'- GCCAGCCATCTTGCTGTG -3'
(R):5'- TCAGCAGCCAGGAGCTAC -3'

Posted On

2014-01-29