Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01346:Lrrc75a'

75060

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc75a

Ensembl Gene

ENSMUSG00000046417

Gene Name

leucine rich repeat containing 75A

Synonyms

Fam211a, BC046404

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01346

Quality Score

Status

Chromosome

Chromosomal Location

62495710-62539349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62496813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000062489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057194]

AlphaFold

Q7TSF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057194
AA Change: T250A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062489
Gene: ENSMUSG00000046417
AA Change: T250A

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
SCOP:d1yrga_	152	290	7e-6	SMART
low complexity region	298	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131787

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	G	2: 150,152,980 (GRCm39)	V135A	unknown	Het
Cnot4	A	T	6: 35,047,183 (GRCm39)	I143N	probably damaging	Het
Cnot6l	A	T	5: 96,234,105 (GRCm39)	M302K	probably damaging	Het
Dmxl2	T	C	9: 54,322,759 (GRCm39)	T1542A	probably damaging	Het
Dnaaf9	A	G	2: 130,633,766 (GRCm39)		probably benign	Het
Dnhd1	T	C	7: 105,363,116 (GRCm39)	S3893P	probably benign	Het
Duox2	A	T	2: 122,117,683 (GRCm39)		probably benign	Het
Dusp1	T	C	17: 26,725,295 (GRCm39)	N355D	probably benign	Het
Fam76b	T	C	9: 13,741,046 (GRCm39)	C60R	probably damaging	Het
Gnptab	G	A	10: 88,272,041 (GRCm39)	V944I	possibly damaging	Het
Gys1	A	G	7: 45,091,961 (GRCm39)	Y249C	probably damaging	Het
Ift88	A	T	14: 57,681,862 (GRCm39)	E215D	probably damaging	Het
Kcnu1	T	C	8: 26,424,551 (GRCm39)		probably benign	Het
Lmln	C	A	16: 32,937,490 (GRCm39)	N618K	probably benign	Het
Mpp4	A	G	1: 59,164,719 (GRCm39)	S435P	probably damaging	Het
Myo1c	T	A	11: 75,563,076 (GRCm39)	V1036E	probably damaging	Het
Nlrp12	T	G	7: 3,289,316 (GRCm39)	T399P	probably damaging	Het
Or2y16	A	G	11: 49,335,595 (GRCm39)	R306G	probably benign	Het
Or4c118	A	G	2: 88,974,575 (GRCm39)	F264S	possibly damaging	Het
Parp8	A	T	13: 117,031,600 (GRCm39)	C332S	possibly damaging	Het
Pdcd11	G	A	19: 47,098,053 (GRCm39)	V780I	probably benign	Het
Plekha5	A	G	6: 140,480,292 (GRCm39)		probably benign	Het
Ppt1	T	A	4: 122,737,848 (GRCm39)	I62K	probably damaging	Het
Proser3	T	C	7: 30,249,071 (GRCm39)	N7S	probably benign	Het
Ptk2b	A	G	14: 66,414,567 (GRCm39)	L311P	possibly damaging	Het
Rasal2	T	C	1: 156,988,786 (GRCm39)	N706S	probably benign	Het
Ripk2	A	G	4: 16,132,775 (GRCm39)		probably null	Het
Setx	T	A	2: 29,034,821 (GRCm39)	H435Q	probably damaging	Het
Smurf2	T	A	11: 106,721,741 (GRCm39)		probably benign	Het
Snx32	A	G	19: 5,547,764 (GRCm39)	L182P	possibly damaging	Het
Stpg2	A	G	3: 139,125,635 (GRCm39)		probably benign	Het
Taar2	A	G	10: 23,816,997 (GRCm39)	Y179C	probably damaging	Het
Tenm2	G	A	11: 35,918,232 (GRCm39)	R1843*	probably null	Het
Tmco4	T	C	4: 138,748,260 (GRCm39)	I280T	probably damaging	Het
Tuba4a	C	A	1: 75,193,921 (GRCm39)	C46F	probably damaging	Het
Ubr1	A	G	2: 120,703,603 (GRCm39)		probably null	Het
Vldlr	A	T	19: 27,217,081 (GRCm39)	I45L	possibly damaging	Het
Vmn2r120	C	A	17: 57,852,232 (GRCm39)	G28V	probably benign	Het
Vmn2r37	C	A	7: 9,209,680 (GRCm39)	V611L	probably benign	Het
Vmn2r67	A	G	7: 84,786,127 (GRCm39)	L626P	probably damaging	Het
Wdr19	C	T	5: 65,379,082 (GRCm39)		probably benign	Het
Zfp595	T	A	13: 67,464,749 (GRCm39)	K505*	probably null	Het

Other mutations in Lrrc75a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1171:Lrrc75a	UTSW	11	62,500,069 (GRCm39)	missense	probably damaging	1.00
R6548:Lrrc75a	UTSW	11	62,496,921 (GRCm39)	missense	probably damaging	0.98
R6576:Lrrc75a	UTSW	11	62,496,695 (GRCm39)	missense	probably damaging	1.00
R7147:Lrrc75a	UTSW	11	62,496,795 (GRCm39)	missense	probably damaging	1.00
R7411:Lrrc75a	UTSW	11	62,496,734 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07