Mutagenetix > Incidental Mutation

Incidental Mutation 'R5226:Gm10722'

472459

Institutional Source

Beutler Lab

Gene Symbol

Gm10722

Ensembl Gene

ENSMUSG00000091028

Gene Name

predicted gene 10722

Synonyms

MMRRC Submission

042799-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R5226 (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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,056,706 (GRCm39)	K98E	possibly damaging	Het
4933414I15Rik	A	T	11: 50,833,416 (GRCm39)	M62K	unknown	Het
Akr1d1	T	A	6: 37,512,949 (GRCm39)		probably null	Het
Ankrd63	T	C	2: 118,533,736 (GRCm39)		probably benign	Het
Atad5	T	C	11: 79,985,888 (GRCm39)	V325A	probably damaging	Het
Atp13a5	G	T	16: 29,067,031 (GRCm39)	N1025K	probably damaging	Het
Atrnl1	G	T	19: 57,638,767 (GRCm39)	V302L	probably benign	Het
Bend7	C	A	2: 4,757,789 (GRCm39)	S277*	probably null	Het
Btnl7-ps	A	T	17: 34,752,261 (GRCm39)		noncoding transcript	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ctla2b	C	T	13: 61,044,146 (GRCm39)	W63*	probably null	Het
Cux1	T	C	5: 136,399,027 (GRCm39)	T170A	probably benign	Het
Cyp3a57	T	C	5: 145,302,507 (GRCm39)	V101A	probably benign	Het
Dao	A	T	5: 114,159,094 (GRCm39)	T267S	probably benign	Het
Dsp	A	G	13: 38,370,746 (GRCm39)	D883G	probably damaging	Het
Dynlt4	A	G	4: 116,985,290 (GRCm39)	T38A	possibly damaging	Het
Eif4g3	C	A	4: 137,824,105 (GRCm39)	P36T	possibly damaging	Het
Elf3	G	A	1: 135,184,977 (GRCm39)	L70F	probably benign	Het
Epb41l4a	C	T	18: 33,943,366 (GRCm39)	D510N	probably damaging	Het
Gcn1	T	C	5: 115,726,126 (GRCm39)	S594P	probably benign	Het
Gpr132	T	C	12: 112,815,768 (GRCm39)	T353A	probably benign	Het
Kntc1	A	G	5: 123,932,235 (GRCm39)	D1343G	probably benign	Het
L3mbtl4	T	A	17: 69,071,717 (GRCm39)		probably null	Het
Lrit2	A	G	14: 36,794,310 (GRCm39)	E458G	probably damaging	Het
Man1c1	A	T	4: 134,305,680 (GRCm39)	I348N	probably damaging	Het
Map4k2	A	G	19: 6,396,534 (GRCm39)		probably benign	Het
Nt5c2	A	C	19: 46,887,068 (GRCm39)	Y203D	probably damaging	Het
Oxgr1	A	G	14: 120,259,665 (GRCm39)	S181P	probably damaging	Het
Parn	A	G	16: 13,443,416 (GRCm39)	C400R	probably benign	Het
Pcdhgb7	T	C	18: 37,885,577 (GRCm39)	V249A	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plcg2	A	T	8: 118,304,613 (GRCm39)	I273F	possibly damaging	Het
Plin1	A	G	7: 79,372,447 (GRCm39)	V64A	probably damaging	Het
Ppfia4	C	A	1: 134,232,024 (GRCm39)		probably null	Het
Prkg2	A	C	5: 99,124,321 (GRCm39)	D376E	possibly damaging	Het
Ptgir	T	A	7: 16,642,645 (GRCm39)	I82N	probably damaging	Het
Pum2	C	T	12: 8,763,458 (GRCm39)	P205L	possibly damaging	Het
Rab26	T	A	17: 24,753,107 (GRCm39)		probably benign	Het
Recql4	T	C	15: 76,594,329 (GRCm39)	E63G	probably benign	Het
Rora	T	A	9: 69,271,423 (GRCm39)		probably benign	Het
Rp1	A	C	1: 4,418,256 (GRCm39)	M952R	probably benign	Het
Rpap3	T	A	15: 97,601,104 (GRCm39)	R44S	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a2	C	A	18: 58,012,092 (GRCm39)	P72T	probably damaging	Het
Slc1a3	C	T	15: 8,671,709 (GRCm39)	V416M	probably damaging	Het
Slfn4	A	T	11: 83,078,375 (GRCm39)	M388L	possibly damaging	Het
Snrnp48	G	A	13: 38,389,093 (GRCm39)	A49T	probably benign	Het
Tlx2	C	T	6: 83,045,911 (GRCm39)	G228D	possibly damaging	Het
Tmem132a	A	G	19: 10,844,508 (GRCm39)	V30A	possibly damaging	Het
Tnfrsf23	C	A	7: 143,239,522 (GRCm39)	L24F	possibly damaging	Het
Ubr2	A	T	17: 47,294,196 (GRCm39)	N312K	probably benign	Het
Vmn1r115	C	T	7: 20,578,169 (GRCm39)	V248I	probably damaging	Het
Vmn2r80	A	G	10: 79,029,874 (GRCm39)	T567A	probably benign	Het
Vps13c	A	G	9: 67,852,835 (GRCm39)	T2372A	probably benign	Het
Wnt10b	G	T	15: 98,674,495 (GRCm39)	H81N	probably damaging	Het
Zfp948	A	G	17: 21,808,505 (GRCm39)	T566A	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
R5017:Gm10722	UTSW	9	3,000,937 (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
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'- TCAAGTCGTCAACTGTATGTTTC -3'
(R):5'- ACTGTAGGACCTGGAATATGGCG -3'

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

Posted On

2017-04-06