Mutagenetix > Incidental Mutation

Incidental Mutation 'R5521:Gm10719'

484481

Institutional Source

Beutler Lab

Gene Symbol

Gm10719

Ensembl Gene

ENSMUSG00000095547

Gene Name

predicted gene 10719

Synonyms

MMRRC Submission

043080-MU

Accession Numbers

Essential gene?

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

Stock #

R5521 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3017408-3021593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3018970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 72 (F72I)

Ref Sequence

ENSEMBL: ENSMUSP00000136170 (fasta)

Gene Model

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

AlphaFold

E9Q7T3

Predicted Effect

probably benign
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 benign
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 damaging
Transcript: ENSMUST00000099049
AA Change: F208Y

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096648
Gene: ENSMUSG00000095547
AA Change: F208Y

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 damaging
Transcript: ENSMUST00000179272
AA Change: F72I

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

SMART Domains

Protein: ENSMUSP00000136170
Gene: ENSMUSG00000095547
AA Change: F72I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 97.5%
10x: 94.4%
20x: 87.5%

Validation Efficiency

94% (72/77)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,190,980 (GRCm39)		probably benign	Het
Abhd14a	G	T	9: 106,321,033 (GRCm39)	D107E	probably damaging	Het
Acat1	T	A	9: 53,494,807 (GRCm39)	K362*	probably null	Het
Adad2	T	A	8: 120,339,528 (GRCm39)	S3R	probably benign	Het
Adcy8	C	A	15: 64,687,199 (GRCm39)	R435M	probably damaging	Het
Adgrv1	A	T	13: 81,567,508 (GRCm39)	S5222T	probably benign	Het
Ankk1	A	T	9: 49,331,748 (GRCm39)	M182K	probably benign	Het
Apba1	C	T	19: 23,870,957 (GRCm39)	P263L	probably damaging	Het
Arhgap39	G	A	15: 76,649,694 (GRCm39)	S26L	possibly damaging	Het
Ccng1	G	A	11: 40,643,093 (GRCm39)	T118I	possibly damaging	Het
Cenpe	T	C	3: 134,974,826 (GRCm39)	S2329P	probably damaging	Het
Chil4	A	G	3: 106,111,013 (GRCm39)	Y294H	possibly damaging	Het
Chst8	A	C	7: 34,374,670 (GRCm39)	S390A	probably benign	Het
Dars1	T	C	1: 128,301,710 (GRCm39)	D308G	probably benign	Het
Dlec1	A	C	9: 118,972,469 (GRCm39)	Q1458P	possibly damaging	Het
Dvl2	G	A	11: 69,897,233 (GRCm39)	E312K	probably damaging	Het
Fchsd1	T	C	18: 38,099,537 (GRCm39)	H219R	probably damaging	Het
Foxd4	A	C	19: 24,877,007 (GRCm39)	C398G	probably damaging	Het
Gm5414	T	C	15: 101,536,422 (GRCm39)	I68V	probably benign	Het
Gmip	C	T	8: 70,270,049 (GRCm39)	T684I	probably damaging	Het
Gpr137c	T	C	14: 45,516,151 (GRCm39)	I295T	possibly damaging	Het
Hivep1	T	A	13: 42,311,804 (GRCm39)	M1348K	probably damaging	Het
Igkv6-23	T	C	6: 70,237,597 (GRCm39)	D48G	probably benign	Het
Il3	G	A	11: 54,157,958 (GRCm39)	T40M	possibly damaging	Het
Ing2	T	C	8: 48,122,248 (GRCm39)	E100G	probably damaging	Het
Itpr3	C	A	17: 27,326,308 (GRCm39)	H1359Q	probably benign	Het
Lama1	T	A	17: 68,087,889 (GRCm39)	Y1502*	probably null	Het
Mamdc2	C	A	19: 23,288,302 (GRCm39)	G579W	probably damaging	Het
Mapk6	G	A	9: 75,300,598 (GRCm39)		probably benign	Het
Mapk8ip2	C	T	15: 89,343,007 (GRCm39)	R616W	probably damaging	Het
Mc5r	T	A	18: 68,472,748 (GRCm39)	L369H	possibly damaging	Het
Meis1	T	C	11: 18,938,260 (GRCm39)		probably benign	Het
Mmp8	A	G	9: 7,560,644 (GRCm39)	K107R	probably benign	Het
Mn1	C	T	5: 111,569,635 (GRCm39)	H1202Y	possibly damaging	Het
Naip2	A	G	13: 100,291,422 (GRCm39)	L1172P	probably damaging	Het
Nek9	C	T	12: 85,374,219 (GRCm39)	D273N	probably benign	Het
Nlrp4e	A	T	7: 23,021,190 (GRCm39)	D559V	probably benign	Het
Nlrp4g	T	C	9: 124,350,020 (GRCm38)		noncoding transcript	Het
Oit3	G	T	10: 59,271,736 (GRCm39)	A207E	probably benign	Het
Or13j1	A	T	4: 43,705,788 (GRCm39)	M260K	possibly damaging	Het
Or14a257	A	T	7: 86,137,839 (GRCm39)	C307S	probably benign	Het
Or4d2b	A	T	11: 87,780,545 (GRCm39)	M59K	probably damaging	Het
Or5w16	A	G	2: 87,577,406 (GRCm39)	I289V	probably benign	Het
Pde4c	T	C	8: 71,200,031 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,438 (GRCm39)	E356G	probably benign	Het
Pramel13	A	G	4: 144,122,541 (GRCm39)	M1T	probably null	Het
Ptges3-ps	T	A	6: 85,821,303 (GRCm39)		noncoding transcript	Het
Ptpn13	T	G	5: 103,649,294 (GRCm39)	F232L	probably benign	Het
Reps1	T	C	10: 17,979,982 (GRCm39)	S114P	probably damaging	Het
Scarf2	T	A	16: 17,621,466 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,498,218 (GRCm39)		probably benign	Het
Secisbp2l	A	T	2: 125,594,897 (GRCm39)	V146D	possibly damaging	Het
Slc26a8	T	A	17: 28,873,833 (GRCm39)	T385S	probably benign	Het
Slc4a1	G	A	11: 102,244,092 (GRCm39)	T679M	probably benign	Het
Tbc1d14	T	A	5: 36,677,896 (GRCm39)	E353V	probably damaging	Het
Thap2	T	A	10: 115,208,665 (GRCm39)	K152*	probably null	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
V1ra8	T	A	6: 90,180,036 (GRCm39)	W80R	probably damaging	Het
Vmn1r218	A	G	13: 23,320,743 (GRCm39)	Y30C	probably benign	Het
Vmn2r60	C	A	7: 41,845,049 (GRCm39)	T804K	probably damaging	Het
Vmn2r68	A	T	7: 84,882,926 (GRCm39)	D275E	probably benign	Het
Vps13c	A	G	9: 67,858,721 (GRCm39)	I2724V	probably benign	Het
Xrcc5	C	A	1: 72,385,430 (GRCm39)	P507Q	probably damaging	Het
Zfp120	A	T	2: 149,959,499 (GRCm39)	Y274*	probably null	Het
Zfp780b	C	A	7: 27,674,173 (GRCm39)		probably null	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
R5538:Gm10719	UTSW	9	3,018,962 (GRCm39)	missense	probably benign
R6215:Gm10719	UTSW	9	3,019,040 (GRCm39)	splice site	probably null
V5622:Gm10719	UTSW	9	3,021,253 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCTACAGTGTGCATTTCTCATT -3'
(R):5'- ACATCCACTTGACGACGTGAA -3'

Sequencing Primer
(F):5'- GTCATTGTTCAAGTTGTCAACTGC -3'
(R):5'- CACACTGTAGGACCTGGAATATTGC -3'

Posted On

2017-07-21