Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Lrrc74a'

188014

Institutional Source

Beutler Lab

Gene Symbol

Lrrc74a

Ensembl Gene

ENSMUSG00000059114

Gene Name

leucine rich repeat containing 74A

Synonyms

Lrrc74, Gm6772

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1675 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

86734369-86763797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86741026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 144 (E144K)

Ref Sequence

ENSEMBL: ENSMUSP00000093183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095527] [ENSMUST00000222180] [ENSMUST00000223308]

AlphaFold

A0A1Y7VMD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000095527
AA Change: E144K

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

SMART Domains

Protein: ENSMUSP00000093183
Gene: ENSMUSG00000059114
AA Change: E144K

Domain	Start	End	E-Value	Type
Blast:LRR	87	116	9e-7	BLAST
LRR	117	144	4.17e-3	SMART
LRR	145	172	3.16e-3	SMART
LRR	174	201	1.92e-2	SMART
LRR	202	229	3.07e-1	SMART
LRR	230	257	1.03e-2	SMART
LRR	258	285	1.64e-1	SMART
LRR	286	313	2.03e0	SMART
LRR	314	341	1.11e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000222180
AA Change: R129Q

Predicted Effect

unknown
Transcript: ENSMUST00000223197
AA Change: E7K

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223308
AA Change: E144K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411		probably null	Het
Adam6b	T	C	12: 113,491,044	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485		probably null	Het
Anapc2	G	A	2: 25,272,639	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648	T941A	probably damaging	Het
Barhl1	C	T	2: 28,915,411	R90Q	possibly damaging	Het
Calr3	T	C	8: 72,431,458	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,980,554	D317G	probably damaging	Het
Cnn3	C	T	3: 121,457,169	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686	S88T	probably benign	Het
Eno3	T	C	11: 70,658,666		probably null	Het
Erbb3	C	A	10: 128,571,204	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055	L360*	probably null	Het
Gldc	A	T	19: 30,143,453	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403	C406S	probably benign	Het
Klhl28	A	T	12: 64,951,819	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,482,453	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Mal	T	C	2: 127,635,044	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191	F205I	probably damaging	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Sema4a	A	T	3: 88,454,766	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syt14	T	C	1: 192,897,482	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,639,050		probably null	Het
Usp49	C	A	17: 47,673,410	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834	K394N	probably damaging	Het

Other mutations in Lrrc74a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Lrrc74a	APN	12	86754430	missense	probably damaging	1.00
IGL01380:Lrrc74a	APN	12	86761722	missense	possibly damaging	0.62
IGL01715:Lrrc74a	APN	12	86754415	missense	probably benign	0.05
IGL01832:Lrrc74a	APN	12	86761714	missense	probably benign	0.00
IGL01953:Lrrc74a	APN	12	86741720	missense	probably damaging	1.00
IGL02218:Lrrc74a	APN	12	86749048	missense	probably benign	0.15
IGL02637:Lrrc74a	APN	12	86741747	nonsense	probably null
IGL03397:Lrrc74a	APN	12	86758538	missense	probably benign	0.39
R0201:Lrrc74a	UTSW	12	86761773	splice site	probably benign
R0360:Lrrc74a	UTSW	12	86737795	missense	probably damaging	1.00
R0403:Lrrc74a	UTSW	12	86740979	missense	probably damaging	1.00
R0729:Lrrc74a	UTSW	12	86745579	nonsense	probably null
R1774:Lrrc74a	UTSW	12	86749053	missense	probably damaging	1.00
R1818:Lrrc74a	UTSW	12	86737710	missense	probably damaging	1.00
R4688:Lrrc74a	UTSW	12	86737698	nonsense	probably null
R6023:Lrrc74a	UTSW	12	86758606	missense	probably damaging	1.00
R6190:Lrrc74a	UTSW	12	86736489	missense	probably benign	0.01
R6226:Lrrc74a	UTSW	12	86748457	missense	possibly damaging	0.87
R6247:Lrrc74a	UTSW	12	86758556	missense	probably damaging	1.00
R7275:Lrrc74a	UTSW	12	86740979	missense	probably damaging	1.00
R7631:Lrrc74a	UTSW	12	86749110	missense	probably damaging	1.00
R7857:Lrrc74a	UTSW	12	86741711	missense	probably benign	0.00
R8172:Lrrc74a	UTSW	12	86741756	missense	probably damaging	1.00
R8715:Lrrc74a	UTSW	12	86758465	missense	probably damaging	1.00
R8717:Lrrc74a	UTSW	12	86736479	missense	probably damaging	0.99
R9080:Lrrc74a	UTSW	12	86749134	missense	possibly damaging	0.87
R9612:Lrrc74a	UTSW	12	86758571	missense	possibly damaging	0.84
X0024:Lrrc74a	UTSW	12	86749045	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCGAACTTAACCAGAGGCTGAAC -3'
(R):5'- TTCCCATAGCCACAGGGTACAGTG -3'

Sequencing Primer
(F):5'- GGCTGAACTTAGCCTCTAACTAC -3'
(R):5'- GCCCTCCTCTGAGAAGTTGTG -3'

Posted On

2014-05-09