Mutagenetix > Incidental Mutation

Incidental Mutation 'R5017:Gm10722'

448972

Institutional Source

Beutler Lab

Gene Symbol

Gm10722

Ensembl Gene

ENSMUSG00000091028

Gene Name

predicted gene 10722

Synonyms

MMRRC Submission

042608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

R5017 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3000922-3002330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3000937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 6 (C6R)

Ref Sequence

ENSEMBL: ENSMUSP00000132394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151376] [ENSMUST00000177722] [ENSMUST00000178077] [ENSMUST00000178348] [ENSMUST00000179881]

AlphaFold

F6VLK5

Predicted Effect

probably benign
Transcript: ENSMUST00000151376
AA Change: C6R

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

SMART Domains

Protein: ENSMUSP00000132394
Gene: ENSMUSG00000091028
AA Change: C6R

Domain	Start	End	E-Value	Type
internal_repeat_2	8	50	1.25e-5	PROSPERO
internal_repeat_1	11	88	6.98e-39	PROSPERO
internal_repeat_2	66	108	1.25e-5	PROSPERO
internal_repeat_1	89	166	6.98e-39	PROSPERO
transmembrane domain	187	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177722

SMART Domains

Protein: ENSMUSP00000136598
Gene: ENSMUSG00000096385

Domain	Start	End	E-Value	Type
internal_repeat_1	1	19	1.14e-8	PROSPERO
transmembrane domain	26	48	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
internal_repeat_1	118	136	1.14e-8	PROSPERO
transmembrane domain	156	178	N/A	INTRINSIC
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178077

SMART Domains

Protein: ENSMUSP00000136761
Gene: ENSMUSG00000096385

Domain	Start	End	E-Value	Type
internal_repeat_1	1	19	4.71e-8	PROSPERO
transmembrane domain	26	48	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
internal_repeat_1	118	136	4.71e-8	PROSPERO
transmembrane domain	156	178	N/A	INTRINSIC
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178348

SMART Domains

Protein: ENSMUSP00000137273
Gene: ENSMUSG00000096385

Domain	Start	End	E-Value	Type
internal_repeat_1	1	48	1.34e-9	PROSPERO
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	165	1.34e-9	PROSPERO
transmembrane domain	196	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179881

SMART Domains

Protein: ENSMUSP00000136541
Gene: ENSMUSG00000096385

Domain	Start	End	E-Value	Type
internal_repeat_1	1	46	5.29e-7	PROSPERO
transmembrane domain	53	72	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	182	5.29e-7	PROSPERO
transmembrane domain	195	217	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181242

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.1%
3x: 97.0%
10x: 94.3%
20x: 87.9%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,810,694 (GRCm39)	D154G	probably benign	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arhgef3	G	T	14: 26,987,487 (GRCm39)	R20L	possibly damaging	Het
Birc2	A	T	9: 7,818,886 (GRCm39)	C568*	probably null	Het
Bltp3a	T	A	17: 28,113,713 (GRCm39)	L1295*	probably null	Het
Cep44	A	G	8: 56,997,242 (GRCm39)	S99P	possibly damaging	Het
Clstn2	A	G	9: 97,365,139 (GRCm39)	W456R	probably damaging	Het
Cog5	T	A	12: 31,970,604 (GRCm39)	S783T	probably benign	Het
Endod1	G	A	9: 14,268,187 (GRCm39)	R433*	probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gdpd4	C	A	7: 97,653,482 (GRCm39)	Y498*	probably null	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Ifit3	A	C	19: 34,564,592 (GRCm39)	N46T	possibly damaging	Het
Kcnh8	T	C	17: 53,200,958 (GRCm39)	L464S	probably damaging	Het
Lrrc9	C	A	12: 72,553,099 (GRCm39)	R1334S	possibly damaging	Het
Macf1	A	G	4: 123,345,906 (GRCm39)	F2631L	probably damaging	Het
Mafa	T	C	15: 75,619,338 (GRCm39)	H145R	probably benign	Het
Muc6	T	C	7: 141,226,795 (GRCm39)	T1411A	probably benign	Het
Nos3	A	G	5: 24,571,717 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,807,484 (GRCm39)		probably benign	Het
Or10g6	A	T	9: 39,933,672 (GRCm39)		probably benign	Het
Or8a1b	A	T	9: 37,622,821 (GRCm39)	Y251*	probably null	Het
Or8g20	A	T	9: 39,396,051 (GRCm39)	M166K	possibly damaging	Het
Pde11a	A	T	2: 75,966,711 (GRCm39)	D579E	probably benign	Het
Phkb	A	T	8: 86,776,438 (GRCm39)	H954L	probably benign	Het
Phldb3	C	T	7: 24,319,521 (GRCm39)	T353M	probably damaging	Het
Pigu	A	T	2: 155,141,128 (GRCm39)		probably null	Het
Pla2r1	A	G	2: 60,353,104 (GRCm39)		probably null	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Setbp1	C	A	18: 78,899,809 (GRCm39)	G1286V	possibly damaging	Het
Siglecg	T	A	7: 43,060,810 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,738,836 (GRCm39)	H118Q	probably damaging	Het
Spata31h1	A	T	10: 82,132,510 (GRCm39)	F167I	unknown	Het
Sycp1	A	T	3: 102,803,303 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,414 (GRCm39)	T862A	probably benign	Het
Tmem256	T	C	11: 69,729,818 (GRCm39)		probably benign	Het
Tpr	A	T	1: 150,274,388 (GRCm39)	E98D	probably benign	Het
Trdn	A	G	10: 33,344,155 (GRCm39)	D623G	probably benign	Het
Trip11	T	C	12: 101,812,879 (GRCm39)	N1485S	probably benign	Het
Trpm1	T	C	7: 63,894,580 (GRCm39)		probably benign	Het
Vmn1r227	T	C	17: 20,956,340 (GRCm39)		noncoding transcript	Het
Xpo6	G	A	7: 125,703,919 (GRCm39)	A21V	probably benign	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het

Other mutations in Gm10722

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Gm10722	APN	9	3,002,230 (GRCm39)	missense	probably damaging	0.98
PIT4131001:Gm10722	UTSW	9	3,001,414 (GRCm39)	unclassified	probably benign
PIT4142001:Gm10722	UTSW	9	3,001,350 (GRCm39)	missense	probably benign
R0148:Gm10722	UTSW	9	3,001,405 (GRCm39)	missense	probably null
R0335:Gm10722	UTSW	9	3,001,048 (GRCm39)	missense	probably null
R4162:Gm10722	UTSW	9	3,001,041 (GRCm39)	missense	probably benign
R4327:Gm10722	UTSW	9	3,000,937 (GRCm39)	missense	probably benign
R4449:Gm10722	UTSW	9	3,001,041 (GRCm39)	missense	probably benign
R4516:Gm10722	UTSW	9	3,000,937 (GRCm39)	missense	probably benign
R4807:Gm10722	UTSW	9	3,000,937 (GRCm39)	missense	probably benign
R4998:Gm10722	UTSW	9	3,001,041 (GRCm39)	missense	probably benign
R5021:Gm10722	UTSW	9	3,001,041 (GRCm39)	missense	probably benign
R5075:Gm10722	UTSW	9	3,001,041 (GRCm39)	missense	probably benign
R5135:Gm10722	UTSW	9	3,000,937 (GRCm39)	missense	probably benign
R5152:Gm10722	UTSW	9	3,001,041 (GRCm39)	missense	probably benign
R5226:Gm10722	UTSW	9	3,000,937 (GRCm39)	missense	probably benign
R5482:Gm10722	UTSW	9	3,001,041 (GRCm39)	missense	probably benign
R7381:Gm10722	UTSW	9	3,001,235 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTCGTCAACTGTATGTTTCTCATTTT -3'
(R):5'- GCACACTGTAGGACCTGGAATAT -3'

Sequencing Primer
(F):5'- GCCATATTCCACGTCCTATAGTG -3'
(R):5'- TCCACTGTAGGACATGGAATATGGC -3'

Posted On

2016-12-20