Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Lrrc8d'

602613

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8d

Ensembl Gene

ENSMUSG00000046079

Gene Name

leucine rich repeat containing 8D

Synonyms

2810473G09Rik, 4930525N13Rik, Lrrc5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105847829-105963081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105960507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 306 (Y306H)

Ref Sequence

ENSEMBL: ENSMUSP00000057293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060531] [ENSMUST00000120847] [ENSMUST00000127686] [ENSMUST00000154807] [ENSMUST00000156630]

AlphaFold

Q8BGR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000060531
AA Change: Y306H

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

SMART Domains

Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: Y306H

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	5.6e-31	PFAM
Pfam:DUF3733	138	197	2e-24	PFAM
transmembrane domain	366	388	N/A	INTRINSIC
internal_repeat_1	490	607	1.13e-8	PROSPERO
LRR	658	681	1.23e0	SMART
LRR	683	705	2.03e1	SMART
LRR_TYP	706	729	9.58e-3	SMART
LRR	730	751	2.47e2	SMART
LRR	752	775	1.76e-1	SMART
LRR	776	797	1.01e2	SMART
LRR	798	821	3.29e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120847
AA Change: Y306H

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

SMART Domains

Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: Y306H

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	385	2.2e-160	PFAM
internal_repeat_1	490	607	1.13e-8	PROSPERO
LRR	658	681	1.23e0	SMART
LRR	683	705	2.03e1	SMART
LRR_TYP	706	729	9.58e-3	SMART
LRR	730	751	2.47e2	SMART
LRR	752	775	1.76e-1	SMART
LRR	776	797	1.01e2	SMART
LRR	798	821	3.29e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127686

Predicted Effect

probably benign
Transcript: ENSMUST00000154807

SMART Domains

Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	1.8e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156630

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
A630073D07Rik	A	C	6: 132,604,406 (GRCm39)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,686,727 (GRCm39)		probably benign	Het
Arb2a	A	T	13: 77,982,794 (GRCm39)	I135L	possibly damaging	Het
Arc	G	C	15: 74,543,980 (GRCm39)	T81S	probably benign	Het
Atad5	A	T	11: 80,002,386 (GRCm39)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,196,957 (GRCm39)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,196,958 (GRCm39)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 57,965,574 (GRCm39)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cep192	A	T	18: 67,971,027 (GRCm39)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,498,921 (GRCm39)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,593,440 (GRCm39)	M14V	probably benign	Het
Colec10	A	G	15: 54,325,787 (GRCm39)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,655,498 (GRCm39)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,707,919 (GRCm39)	D748G	probably damaging	Het
Etl4	C	T	2: 20,524,729 (GRCm39)	Q21*	probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,356,131 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,821,865 (GRCm39)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,612 (GRCm39)		probably null	Het
Garin5a	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,149,951 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,937,518 (GRCm39)		probably null	Het
Grip2	C	T	6: 91,760,574 (GRCm39)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,500,312 (GRCm39)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Il12a	A	T	3: 68,602,562 (GRCm39)	T102S	probably benign	Het
Il1a	T	A	2: 129,144,852 (GRCm39)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 82,696,150 (GRCm39)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,447,806 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGTGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,136,777 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,567,258 (GRCm39)	A1821E	unknown	Het
Maz	A	G	7: 126,624,669 (GRCm39)	C284R	probably damaging	Het
Med23	A	G	10: 24,779,683 (GRCm39)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,427,099 (GRCm39)		probably benign	Het
Mmp14	C	T	14: 54,676,471 (GRCm39)	R339*	probably null	Het
Mroh9	T	G	1: 162,885,630 (GRCm39)	K334T	probably damaging	Het
Nab1	A	T	1: 52,518,441 (GRCm39)	C320S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Nudt4	T	C	10: 95,385,236 (GRCm39)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,458,084 (GRCm39)		probably benign	Het
Or10al2	A	C	17: 37,983,749 (GRCm39)	K278N	probably damaging	Het
Or2d4	T	A	7: 106,543,855 (GRCm39)	M118L	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	TTA	TTAGTA	7: 102,747,513 (GRCm39)		probably null	Het
Or7g16	T	C	9: 18,726,778 (GRCm39)	T271A	probably benign	Het
Or9a7	T	C	6: 40,521,296 (GRCm39)	I206V	probably benign	Het
Plxnc1	T	C	10: 94,630,306 (GRCm39)	Y1531C	probably damaging	Het
Pnma8b	TGA	TGAAGA	7: 16,679,941 (GRCm39)		probably benign	Het
Rp1	A	G	1: 4,414,917 (GRCm39)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 24,164,343 (GRCm39)		probably benign	Het
Sepsecs	G	A	5: 52,804,533 (GRCm39)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,646,828 (GRCm39)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Tfeb	C	T	17: 48,099,003 (GRCm39)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,593,335 (GRCm39)		probably null	Het
Tmem94	G	A	11: 115,686,958 (GRCm39)	V1108M	probably damaging	Het
Usp35	T	C	7: 96,971,303 (GRCm39)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,629,598 (GRCm39)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp407	A	T	18: 84,227,688 (GRCm39)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,617,704 (GRCm39)	S254P	probably damaging	Het

Other mutations in Lrrc8d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Lrrc8d	APN	5	105,959,818 (GRCm39)	missense	possibly damaging	0.60
IGL01327:Lrrc8d	APN	5	105,960,131 (GRCm39)	missense	probably damaging	1.00
IGL02148:Lrrc8d	APN	5	105,960,253 (GRCm39)	missense	possibly damaging	0.92
IGL02228:Lrrc8d	APN	5	105,959,730 (GRCm39)	missense	probably benign	0.44
IGL02551:Lrrc8d	APN	5	105,961,414 (GRCm39)	missense	possibly damaging	0.78
IGL02605:Lrrc8d	APN	5	105,974,683 (GRCm39)	intron	noncoding transcript
heehaw	UTSW	5	105,960,957 (GRCm39)	missense	probably damaging	1.00
hoot	UTSW	5	105,959,626 (GRCm39)	missense	probably damaging	1.00
BB009:Lrrc8d	UTSW	5	105,960,891 (GRCm39)	missense	probably damaging	1.00
BB019:Lrrc8d	UTSW	5	105,960,891 (GRCm39)	missense	probably damaging	1.00
R0415:Lrrc8d	UTSW	5	105,959,731 (GRCm39)	missense	probably damaging	1.00
R1424:Lrrc8d	UTSW	5	105,974,782 (GRCm39)	missense	unknown
R1754:Lrrc8d	UTSW	5	105,960,523 (GRCm39)	missense	probably benign
R3411:Lrrc8d	UTSW	5	105,974,572 (GRCm39)	intron	noncoding transcript
R3605:Lrrc8d	UTSW	5	105,974,873 (GRCm39)	missense	unknown
R3705:Lrrc8d	UTSW	5	105,961,341 (GRCm39)	missense	probably damaging	1.00
R3798:Lrrc8d	UTSW	5	105,960,355 (GRCm39)	missense	probably benign	0.12
R3951:Lrrc8d	UTSW	5	105,962,142 (GRCm39)	missense	probably benign	0.00
R4300:Lrrc8d	UTSW	5	105,961,606 (GRCm39)	missense	probably damaging	0.99
R4953:Lrrc8d	UTSW	5	105,961,234 (GRCm39)	missense	probably damaging	1.00
R5211:Lrrc8d	UTSW	5	105,961,606 (GRCm39)	missense	probably damaging	0.99
R5436:Lrrc8d	UTSW	5	105,960,418 (GRCm39)	missense	probably damaging	0.98
R5512:Lrrc8d	UTSW	5	105,960,650 (GRCm39)	missense	probably damaging	1.00
R5512:Lrrc8d	UTSW	5	105,960,651 (GRCm39)	missense	probably benign	0.00
R5514:Lrrc8d	UTSW	5	105,960,651 (GRCm39)	missense	probably benign	0.00
R5514:Lrrc8d	UTSW	5	105,960,650 (GRCm39)	missense	probably damaging	1.00
R5531:Lrrc8d	UTSW	5	105,945,536 (GRCm39)	intron	probably benign
R5929:Lrrc8d	UTSW	5	105,960,472 (GRCm39)	missense	probably damaging	0.98
R6063:Lrrc8d	UTSW	5	105,959,992 (GRCm39)	missense	probably benign	0.01
R6379:Lrrc8d	UTSW	5	105,960,675 (GRCm39)	missense	probably benign	0.08
R6431:Lrrc8d	UTSW	5	105,959,626 (GRCm39)	missense	probably damaging	1.00
R7127:Lrrc8d	UTSW	5	105,960,829 (GRCm39)	missense	probably damaging	1.00
R7682:Lrrc8d	UTSW	5	105,960,657 (GRCm39)	missense	probably damaging	1.00
R7821:Lrrc8d	UTSW	5	105,960,210 (GRCm39)	missense	probably damaging	1.00
R7932:Lrrc8d	UTSW	5	105,960,891 (GRCm39)	missense	probably damaging	1.00
R8528:Lrrc8d	UTSW	5	105,960,352 (GRCm39)	missense	probably benign	0.22
R8976:Lrrc8d	UTSW	5	105,960,957 (GRCm39)	missense	probably damaging	1.00
R9063:Lrrc8d	UTSW	5	105,961,959 (GRCm39)	missense	probably damaging	0.97
R9116:Lrrc8d	UTSW	5	105,961,908 (GRCm39)	missense	probably damaging	1.00
R9211:Lrrc8d	UTSW	5	105,960,216 (GRCm39)	missense	probably damaging	1.00
R9358:Lrrc8d	UTSW	5	105,960,358 (GRCm39)	missense	probably benign	0.01
R9388:Lrrc8d	UTSW	5	105,961,862 (GRCm39)	missense	probably damaging	0.97
R9796:Lrrc8d	UTSW	5	105,959,917 (GRCm39)	missense	probably benign	0.01
X0024:Lrrc8d	UTSW	5	105,959,611 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTAAGGCGCTGTCAGAGAC -3'
(R):5'- CATGTAGGCCATATTGTGAGTGC -3'

Sequencing Primer
(F):5'- ACGGCCTGTGAAGACTCTGAG -3'
(R):5'- TTGTGAGTGCACTCGAACAC -3'

Posted On

2019-12-04