Mutagenetix > Incidental Mutation

Incidental Mutation 'R6215:Gm10719'

523286

Institutional Source

Beutler Lab

Gene Symbol

Gm10719

Ensembl Gene

ENSMUSG00000095547

Gene Name

predicted gene 10719

Synonyms

MMRRC Submission

044348-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R6215 (G1)

Quality Score

66.1326

Status

Validated

Chromosome

Chromosomal Location

3017408-3021593 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 3019040 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099049] [ENSMUST00000099050] [ENSMUST00000143083] [ENSMUST00000179272]

AlphaFold

E9Q7T3

Predicted Effect

probably null
Transcript: ENSMUST00000099046

SMART Domains

Protein: ENSMUSP00000096645
Gene: ENSMUSG00000095186

Domain	Start	End	E-Value	Type
internal_repeat_1	1	41	4.44e-7	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	177	4.44e-7	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000099047

SMART Domains

Protein: ENSMUSP00000096646
Gene: ENSMUSG00000095547

Domain	Start	End	E-Value	Type
internal_repeat_1	1	40	1.58e-10	PROSPERO
transmembrane domain	53	72	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	176	1.58e-10	PROSPERO
transmembrane domain	199	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099049

SMART Domains

Protein: ENSMUSP00000096648
Gene: ENSMUSG00000095547

Domain	Start	End	E-Value	Type
internal_repeat_1	1	46	2.19e-9	PROSPERO
transmembrane domain	62	84	N/A	INTRINSIC
internal_repeat_1	117	182	2.19e-9	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099050

SMART Domains

Protein: ENSMUSP00000096649
Gene: ENSMUSG00000074564

Domain	Start	End	E-Value	Type
internal_repeat_1	1	46	7.44e-11	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	182	7.44e-11	PROSPERO
transmembrane domain	192	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143083

SMART Domains

Protein: ENSMUSP00000137330
Gene: ENSMUSG00000096519

Domain	Start	End	E-Value	Type
internal_repeat_1	1	19	1.27e-7	PROSPERO
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	135	1.27e-7	PROSPERO
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	192	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179272
AA Change: L95Q

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

SMART Domains

Protein: ENSMUSP00000136170
Gene: ENSMUSG00000095547
AA Change: L95Q

Domain	Start	End	E-Value	Type
internal_repeat_1	1	49	2.1e-10	PROSPERO
transmembrane domain	74	96	N/A	INTRINSIC
internal_repeat_1	118	186	2.1e-10	PROSPERO
transmembrane domain	198	217	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181572

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,727,713 (GRCm39)	W309*	probably null	Het
Aox1	G	A	1: 58,124,620 (GRCm39)	V954I	probably benign	Het
Asnsd1	A	C	1: 53,387,187 (GRCm39)		probably null	Het
Aste1	A	G	9: 105,274,056 (GRCm39)	K38E	probably damaging	Het
Catsperg1	A	G	7: 28,899,664 (GRCm39)	V339A	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cd79b	C	A	11: 106,203,267 (GRCm39)		probably null	Het
Cemip2	C	A	19: 21,789,751 (GRCm39)	N650K	probably benign	Het
Chd3	A	G	11: 69,247,380 (GRCm39)	L981P	probably damaging	Het
Chia1	T	C	3: 106,029,761 (GRCm39)	F132L	probably damaging	Het
Dhx9	G	A	1: 153,348,209 (GRCm39)	P336S	probably damaging	Het
Dido1	T	C	2: 180,303,945 (GRCm39)	K1320E	probably damaging	Het
Dmbt1	G	T	7: 130,668,463 (GRCm39)	C573F	possibly damaging	Het
Dmtn	A	G	14: 70,850,776 (GRCm39)	I205T	probably benign	Het
Efnb3	C	A	11: 69,447,591 (GRCm39)	V181L	probably benign	Het
Flg2	G	T	3: 93,109,166 (GRCm39)	C398F	possibly damaging	Het
Gabbr1	A	G	17: 37,380,257 (GRCm39)	D604G	probably damaging	Het
Glis2	T	A	16: 4,428,197 (GRCm39)	L83*	probably null	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Kcnj13	A	G	1: 87,314,256 (GRCm39)	V322A	probably benign	Het
Nav3	A	G	10: 109,688,426 (GRCm39)	L617P	probably damaging	Het
Npc1	ACAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAG	18: 12,369,249 (GRCm39)		probably benign	Het
Or8b3b	A	G	9: 38,584,510 (GRCm39)	S90P	probably benign	Het
Osgin1	G	A	8: 120,172,183 (GRCm39)	V326I	probably benign	Het
Pcsk7	A	C	9: 45,821,674 (GRCm39)	N156T	possibly damaging	Het
Pde4d	C	T	13: 110,085,967 (GRCm39)	S515L	probably damaging	Het
Peg10	GC	GCCCC	6: 4,756,452 (GRCm39)		probably benign	Het
Ppp2r5a	T	A	1: 191,094,447 (GRCm39)	Q191L	probably benign	Het
Prom2	A	G	2: 127,381,695 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Scn3a	T	C	2: 65,325,380 (GRCm39)	I1046V	probably benign	Het
Sh3glb2	T	C	2: 30,235,805 (GRCm39)	E313G	possibly damaging	Het
Slc13a1	A	T	6: 24,090,795 (GRCm39)	Y541*	probably null	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Spata31h1	T	A	10: 82,126,946 (GRCm39)	K2021N	probably benign	Het
Speer1d	C	T	5: 11,307,197 (GRCm39)	T25I	probably damaging	Het
Tm6sf2	T	C	8: 70,525,724 (GRCm39)	V27A	possibly damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Trim21	A	G	7: 102,208,646 (GRCm39)	S358P	probably damaging	Het
Ttc21a	A	G	9: 119,795,838 (GRCm39)	Y1224C	probably damaging	Het
Ttn	T	A	2: 76,710,552 (GRCm39)		probably benign	Het
Vmn2r99	A	G	17: 19,602,820 (GRCm39)	Q525R	probably benign	Het

Other mutations in Gm10719

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4063:Gm10719	UTSW	9	3,019,043 (GRCm39)	missense	probably damaging	1.00
R4559:Gm10719	UTSW	9	3,018,945 (GRCm39)	missense	probably benign	0.17
R4952:Gm10719	UTSW	9	3,018,962 (GRCm39)	missense	probably benign
R5042:Gm10719	UTSW	9	3,018,970 (GRCm39)	missense	probably damaging	1.00
R5521:Gm10719	UTSW	9	3,018,970 (GRCm39)	missense	probably damaging	1.00
R5538:Gm10719	UTSW	9	3,018,962 (GRCm39)	missense	probably benign
V5622:Gm10719	UTSW	9	3,021,253 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCTACAGTGTGCATTTCTCA -3'
(R):5'- ACATCCACTTGACGACGTGAAA -3'

Sequencing Primer
(F):5'- CGCCATATTTCACGTGCTAAAGTG -3'
(R):5'- TGAGAAATGCACCCTGTATGACCTG -3'

Posted On

2018-06-18