Mutagenetix > Incidental Mutation

Incidental Mutation 'R9080:Lrrc74a'

689977

Institutional Source

Beutler Lab

Gene Symbol

Lrrc74a

Ensembl Gene

ENSMUSG00000059114

Gene Name

leucine rich repeat containing 74A

Synonyms

Lrrc74, Gm6772

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9080 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86734369-86763797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86749134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 294 (V294F)

Ref Sequence

ENSEMBL: ENSMUSP00000152661 (fasta)

Gene Model

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

AlphaFold

A0A1Y7VMD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000095527
AA Change: V294F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093183
Gene: ENSMUSG00000059114
AA Change: V294F

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

probably benign
Transcript: ENSMUST00000222180

Predicted Effect

probably benign
Transcript: ENSMUST00000223197

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223308
AA Change: V294F

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,178,993 (GRCm38)	I13T	unknown	Het
Adad1	G	T	3: 37,065,249 (GRCm38)	V160L	probably benign	Het
Adamts6	T	A	13: 104,312,919 (GRCm38)	M279K	probably damaging	Het
Adgra2	T	C	8: 27,114,501 (GRCm38)	S535P	probably benign	Het
Akr1c13	C	T	13: 4,191,173 (GRCm38)		probably benign	Het
Anapc1	A	G	2: 128,622,506 (GRCm38)	I1690T	possibly damaging	Het
Ccdc138	A	G	10: 58,562,062 (GRCm38)	M575V	probably damaging	Het
Cfap100	T	C	6: 90,406,201 (GRCm38)	N330S	unknown	Het
Col12a1	T	C	9: 79,609,851 (GRCm38)	D2849G	probably benign	Het
Cox11	G	A	11: 90,644,420 (GRCm38)	M232I	probably damaging	Het
Cpne7	C	T	8: 123,130,212 (GRCm38)	P402L	probably damaging	Het
Cspp1	G	A	1: 10,113,694 (GRCm38)	S848N	probably benign	Het
Cxcr5	A	G	9: 44,513,266 (GRCm38)	S365P	probably damaging	Het
Dclre1c	A	T	2: 3,457,552 (GRCm38)	M389L	probably benign	Het
Dlc1	T	C	8: 36,584,852 (GRCm38)	D124G	probably benign	Het
Dtx3	A	T	10: 127,191,268 (GRCm38)	S346T	possibly damaging	Het
Exosc10	A	G	4: 148,564,664 (GRCm38)	D337G	probably damaging	Het
Fpr1	G	A	17: 17,876,950 (GRCm38)	A259V	probably benign	Het
Gm11232	A	T	4: 71,757,833 (GRCm38)	M25K	probably benign	Het
Gm4950	A	G	18: 51,865,850 (GRCm38)	V11A	possibly damaging	Het
Gsap	C	T	5: 21,194,412 (GRCm38)	T37I	possibly damaging	Het
Igfbp2	T	A	1: 72,851,998 (GRCm38)	C252S	probably damaging	Het
Ing2	T	C	8: 47,668,773 (GRCm38)	T247A	possibly damaging	Het
Ints1	C	T	5: 139,753,545 (GRCm38)	V2028M	probably benign	Het
Itfg1	A	G	8: 85,740,245 (GRCm38)	F400L	possibly damaging	Het
Itga6	A	G	2: 71,843,289 (GRCm38)	Y889C	probably benign	Het
Kcnh3	A	G	15: 99,241,786 (GRCm38)	E882G	probably damaging	Het
Limch1	T	A	5: 67,017,649 (GRCm38)	C515S	probably benign	Het
Megf8	A	G	7: 25,341,706 (GRCm38)	E1120G	probably damaging	Het
Nbea	A	T	3: 56,005,095 (GRCm38)	Y1090*	probably null	Het
Nckap1	A	G	2: 80,520,382 (GRCm38)	Y794H	probably damaging	Het
Nfib	T	C	4: 82,705,517 (GRCm38)	M25V		Het
Ogfod2	A	G	5: 124,114,944 (GRCm38)	E339G	probably damaging	Het
Olah	T	A	2: 3,348,352 (GRCm38)	E64V	probably damaging	Het
Olfr237-ps1	T	A	6: 43,153,896 (GRCm38)	V197D	possibly damaging	Het
Or9a4	T	A	6: 40,571,629 (GRCm38)	L81H	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,556 (GRCm38)	K120M	probably damaging	Het
Pex1	A	G	5: 3,605,476 (GRCm38)	I134V	probably damaging	Het
Plekhm2	T	C	4: 141,631,728 (GRCm38)	H576R	probably damaging	Het
Ptpn13	T	A	5: 103,489,628 (GRCm38)	H127Q	probably damaging	Het
Rmnd5b	C	T	11: 51,624,228 (GRCm38)		probably null	Het
Rsf1	A	AAGGCGACGG	7: 97,579,904 (GRCm38)		probably null	Het
Sec16b	C	A	1: 157,565,730 (GRCm38)	Q995K	probably benign	Het
Serpinb6d	T	A	13: 33,671,124 (GRCm38)	S260R	probably benign	Het
Slc47a1	C	T	11: 61,373,393 (GRCm38)	G67S	possibly damaging	Het
Slco6d1	T	C	1: 98,421,258 (GRCm38)	V18A	probably benign	Het
Tfcp2	GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA	GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA	15: 100,498,087 (GRCm38)		probably null	Het
Tiam2	T	G	17: 3,414,244 (GRCm38)	C83G	probably benign	Het
Tlcd5	C	T	9: 43,111,369 (GRCm38)	R230Q	probably benign	Het
Tln2	C	T	9: 67,346,561 (GRCm38)	G743R	probably damaging	Het
Tnks	CCCGCCGCCGCCGCCGCCGCCG	CCCGCCGCCGCCGCCGCCG	8: 34,965,312 (GRCm38)		probably benign	Het
Ttn	G	A	2: 76,706,499 (GRCm38)	T34994I	probably benign	Het
Ube2q2l	T	A	6: 136,400,722 (GRCm38)	D370V	probably damaging	Het
Uggt2	T	A	14: 119,057,605 (GRCm38)	E536D	probably benign	Het
Usp54	T	C	14: 20,562,240 (GRCm38)	E836G	probably damaging	Het
Vmn1r41	C	T	6: 89,747,156 (GRCm38)	T63M	unknown	Het
Vmn2r72	A	C	7: 85,738,256 (GRCm38)	I700S	probably damaging	Het
Xrcc4	T	C	13: 90,000,978 (GRCm38)	N141S	probably damaging	Het
Zfp638	T	C	6: 83,867,173 (GRCm38)	V6A	unknown	Het

Other mutations in Lrrc74a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Lrrc74a	APN	12	86,754,430 (GRCm38)	missense	probably damaging	1.00
IGL01380:Lrrc74a	APN	12	86,761,722 (GRCm38)	missense	possibly damaging	0.62
IGL01715:Lrrc74a	APN	12	86,754,415 (GRCm38)	missense	probably benign	0.05
IGL01832:Lrrc74a	APN	12	86,761,714 (GRCm38)	missense	probably benign	0.00
IGL01953:Lrrc74a	APN	12	86,741,720 (GRCm38)	missense	probably damaging	1.00
IGL02218:Lrrc74a	APN	12	86,749,048 (GRCm38)	missense	probably benign	0.15
IGL02637:Lrrc74a	APN	12	86,741,747 (GRCm38)	nonsense	probably null
IGL03397:Lrrc74a	APN	12	86,758,538 (GRCm38)	missense	probably benign	0.39
R0201:Lrrc74a	UTSW	12	86,761,773 (GRCm38)	splice site	probably benign
R0360:Lrrc74a	UTSW	12	86,737,795 (GRCm38)	missense	probably damaging	1.00
R0403:Lrrc74a	UTSW	12	86,740,979 (GRCm38)	missense	probably damaging	1.00
R0729:Lrrc74a	UTSW	12	86,745,579 (GRCm38)	nonsense	probably null
R1675:Lrrc74a	UTSW	12	86,741,026 (GRCm38)	missense	probably damaging	1.00
R1774:Lrrc74a	UTSW	12	86,749,053 (GRCm38)	missense	probably damaging	1.00
R1818:Lrrc74a	UTSW	12	86,737,710 (GRCm38)	missense	probably damaging	1.00
R4688:Lrrc74a	UTSW	12	86,737,698 (GRCm38)	nonsense	probably null
R6023:Lrrc74a	UTSW	12	86,758,606 (GRCm38)	missense	probably damaging	1.00
R6190:Lrrc74a	UTSW	12	86,736,489 (GRCm38)	missense	probably benign	0.01
R6226:Lrrc74a	UTSW	12	86,748,457 (GRCm38)	missense	possibly damaging	0.87
R6247:Lrrc74a	UTSW	12	86,758,556 (GRCm38)	missense	probably damaging	1.00
R7275:Lrrc74a	UTSW	12	86,740,979 (GRCm38)	missense	probably damaging	1.00
R7631:Lrrc74a	UTSW	12	86,749,110 (GRCm38)	missense	probably damaging	1.00
R7857:Lrrc74a	UTSW	12	86,741,711 (GRCm38)	missense	probably benign	0.00
R8172:Lrrc74a	UTSW	12	86,741,756 (GRCm38)	missense	probably damaging	1.00
R8715:Lrrc74a	UTSW	12	86,758,465 (GRCm38)	missense	probably damaging	1.00
R8717:Lrrc74a	UTSW	12	86,736,479 (GRCm38)	missense	probably damaging	0.99
R9612:Lrrc74a	UTSW	12	86,758,571 (GRCm38)	missense	possibly damaging	0.84
X0024:Lrrc74a	UTSW	12	86,749,045 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGGTTAGCATTTAGGTCAGTTAG -3'
(R):5'- GCACATTCAAGGGTACACGC -3'

Sequencing Primer
(F):5'- GGTACTCCGGGCATTTTCCTG -3'
(R):5'- TTCAAGGGTACACGCTCATG -3'

Posted On

2021-11-19