Mutagenetix > Incidental Mutation

Incidental Mutation 'R2471:Gm19402'

253102

Institutional Source

Beutler Lab

Gene Symbol

Gm19402

Ensembl Gene

ENSMUSG00000095970

Gene Name

predicted gene, 19402

Synonyms

MMRRC Submission

040403-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2471 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

77525791-77526591 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 77526354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000180297]

AlphaFold

J3QJV4

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

unknown
Transcript: ENSMUST00000180297
AA Change: S80T

SMART Domains

Protein: ENSMUSP00000136066
Gene: ENSMUSG00000095970
AA Change: S80T

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	25	71	2.1e-6	PFAM
Pfam:Keratin_B2_2	67	112	8.1e-9	PFAM
Pfam:Keratin_B2_2	108	157	1.4e-5	PFAM
Pfam:Keratin_B2_2	152	193	3.1e-7	PFAM
Pfam:Keratin_B2_2	189	234	3.4e-5	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,888,147 (GRCm39)	M390K	probably benign	Het
Bicra	A	G	7: 15,706,257 (GRCm39)	S1395P	probably benign	Het
Cacnb2	G	A	2: 14,989,125 (GRCm39)	D402N	probably damaging	Het
Csmd1	T	A	8: 16,261,776 (GRCm39)	D907V	probably damaging	Het
Cstl1	T	A	2: 148,593,041 (GRCm39)	Y65*	probably null	Het
Dnajc1	T	C	2: 18,224,627 (GRCm39)	I213V	possibly damaging	Het
Emcn	C	T	3: 137,109,772 (GRCm39)	T138M	probably damaging	Het
F3	G	T	3: 121,518,689 (GRCm39)	W51L	probably damaging	Het
Far2	A	G	6: 148,040,192 (GRCm39)	Y41C	probably damaging	Het
Flrt1	A	T	19: 7,073,856 (GRCm39)	D230E	probably damaging	Het
Gimap7	G	A	6: 48,700,986 (GRCm39)	V191M	probably damaging	Het
Ipo5	A	C	14: 121,159,574 (GRCm39)	K134T	probably benign	Het
Kcnf1	T	C	12: 17,225,531 (GRCm39)	E230G	probably damaging	Het
Mad1l1	T	C	5: 140,247,307 (GRCm39)	E340G	probably benign	Het
Map4k5	T	C	12: 69,903,620 (GRCm39)	I62V	probably benign	Het
Marchf7	A	G	2: 60,067,244 (GRCm39)	K588R	possibly damaging	Het
Mctp2	T	A	7: 71,810,909 (GRCm39)	K52*	probably null	Het
Nr1h4	A	T	10: 89,309,756 (GRCm39)	F310L	probably damaging	Het
Ofcc1	G	A	13: 40,250,501 (GRCm39)	S605F	probably damaging	Het
Or2w1b	A	T	13: 21,300,599 (GRCm39)	T246S	probably damaging	Het
Or5ac25	A	T	16: 59,181,944 (GRCm39)	S212R	possibly damaging	Het
Or5b97	G	A	19: 12,878,679 (GRCm39)	T155I	probably benign	Het
Pcdh20	T	G	14: 88,704,672 (GRCm39)	E876A	probably benign	Het
Plce1	C	T	19: 38,768,370 (GRCm39)	A2215V	probably damaging	Het
Ptprg	T	C	14: 12,210,327 (GRCm38)	Y128H	probably damaging	Het
Sigirr	A	G	7: 140,672,510 (GRCm39)	L204S	probably damaging	Het
Slc2a12	A	T	10: 22,540,706 (GRCm39)	Y187F	probably damaging	Het
Slc31a2	A	T	4: 62,214,312 (GRCm39)	R86W	probably null	Het
Smc1b	T	C	15: 84,976,218 (GRCm39)	K830E	probably damaging	Het
Ssrp1	A	G	2: 84,872,642 (GRCm39)	N427D	possibly damaging	Het
Taar9	A	T	10: 23,985,289 (GRCm39)	F48L	probably benign	Het
Taok2	T	C	7: 126,474,272 (GRCm39)	E319G	probably damaging	Het
Try10	T	C	6: 41,333,680 (GRCm39)	S142P	probably damaging	Het
Tsc22d1	A	G	14: 76,655,644 (GRCm39)	T626A	probably benign	Het
Zfp101	T	C	17: 33,599,950 (GRCm39)	E602G	possibly damaging	Het

Other mutations in Gm19402

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Gm19402	APN	10	77,526,323 (GRCm39)	intron	probably benign
R5743:Gm19402	UTSW	10	77,526,516 (GRCm39)	missense	probably damaging	1.00
R6125:Gm19402	UTSW	10	77,526,507 (GRCm39)	missense	probably damaging	0.99
R6285:Gm19402	UTSW	10	77,526,354 (GRCm39)	intron	probably benign
R6361:Gm19402	UTSW	10	77,525,895 (GRCm39)	intron	probably benign
R7372:Gm19402	UTSW	10	77,526,261 (GRCm39)	missense	unknown
R8332:Gm19402	UTSW	10	77,526,048 (GRCm39)	missense	unknown
R9024:Gm19402	UTSW	10	77,525,805 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCAGCAGAGGGTCATACAG -3'
(R):5'- GTGACCTAAGCTATGACAGGCG -3'

Sequencing Primer
(F):5'- CAGAGGGTCATACAGCAGGGC -3'
(R):5'- CTAAGCTATGACAGGCGGGTCTG -3'

Posted On

2014-12-04