Mutagenetix > Incidental Mutation

Incidental Mutation 'R8217:Klhl8'

636412

Institutional Source

Beutler Lab

Gene Symbol

Klhl8

Ensembl Gene

ENSMUSG00000029312

Gene Name

kelch-like 8

Synonyms

D5Ertd431e, 2310001P09Rik

MMRRC Submission

067658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104009916-104059137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104015466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 486 (V486A)

Ref Sequence

ENSEMBL: ENSMUSP00000031254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031254] [ENSMUST00000112811] [ENSMUST00000112815] [ENSMUST00000131843]

AlphaFold

P59280

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031254
AA Change: V486A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031254
Gene: ENSMUSG00000029312
AA Change: V486A

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
BTB	76	173	1.14e-24	SMART
BACK	178	280	7.17e-30	SMART
Kelch	328	375	4.01e-8	SMART
Kelch	376	422	2.52e-14	SMART
Kelch	423	469	3.23e-12	SMART
Kelch	470	516	1.03e-10	SMART
Kelch	517	563	1.66e-14	SMART
Kelch	564	610	6.12e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112811
AA Change: V303A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108430
Gene: ENSMUSG00000029312
AA Change: V303A

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
Kelch	145	192	4.01e-8	SMART
Kelch	193	239	2.52e-14	SMART
Kelch	240	286	3.23e-12	SMART
Kelch	287	333	1.03e-10	SMART
Kelch	334	380	1.66e-14	SMART
Kelch	381	427	6.12e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112815
AA Change: V410A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108434
Gene: ENSMUSG00000029312
AA Change: V410A

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
BACK	102	204	7.17e-30	SMART
Kelch	252	299	4.01e-8	SMART
Kelch	300	346	2.52e-14	SMART
Kelch	347	393	3.23e-12	SMART
Kelch	394	440	1.03e-10	SMART
Kelch	441	487	1.66e-14	SMART
Kelch	488	534	6.12e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131843

SMART Domains

Protein: ENSMUSP00000117671
Gene: ENSMUSG00000029312

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC

Meta Mutation Damage Score

0.6354

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,037,921 (GRCm39)	L406P	probably damaging	Het
Aph1b	T	C	9: 66,686,554 (GRCm39)	K239E	possibly damaging	Het
Atp13a4	C	A	16: 29,222,619 (GRCm39)	V1102F		Het
B3gat1	G	A	9: 26,668,165 (GRCm39)	A265T	probably damaging	Het
Bod1l	T	C	5: 41,988,850 (GRCm39)	E419G	probably damaging	Het
Ccdc142	T	C	6: 83,080,197 (GRCm39)	L380P	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cfi	A	C	3: 129,648,650 (GRCm39)	N178T	possibly damaging	Het
Col5a1	T	A	2: 27,812,135 (GRCm39)	D72E	unknown	Het
Cspg4	T	A	9: 56,797,637 (GRCm39)	V1367D	possibly damaging	Het
D5Ertd579e	A	C	5: 36,771,402 (GRCm39)	S998A	probably benign	Het
Ehf	T	C	2: 103,109,976 (GRCm39)	E77G	possibly damaging	Het
Erap1	T	C	13: 74,820,937 (GRCm39)	I662T	probably benign	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Lrrc72	A	T	12: 36,258,676 (GRCm39)	D60E	probably damaging	Het
Marchf5	C	T	19: 37,185,210 (GRCm39)		probably benign	Het
Mtmr12	T	C	15: 12,259,726 (GRCm39)	I365T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nod2	A	C	8: 89,390,785 (GRCm39)	D364A	probably benign	Het
Numa1	T	A	7: 101,641,876 (GRCm39)	M108K	possibly damaging	Het
Nutm2	G	T	13: 50,623,759 (GRCm39)	R152L	probably benign	Het
Or14c43	A	G	7: 86,115,390 (GRCm39)	Y257C	probably damaging	Het
Or2t46	A	T	11: 58,471,792 (GRCm39)	M41L	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pak1ip1	T	A	13: 41,166,126 (GRCm39)	S350R	probably benign	Het
Pcdha3	T	C	18: 37,079,974 (GRCm39)	F239L	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,586,092 (GRCm39)	T524I	possibly damaging	Het
Plekhg2	T	A	7: 28,067,717 (GRCm39)	Q245L	probably null	Het
Pola2	T	A	19: 6,013,855 (GRCm39)	K26N	possibly damaging	Het
Prune2	G	T	19: 17,097,480 (GRCm39)	A995S	probably benign	Het
Rap2b	C	A	3: 61,272,551 (GRCm39)	T25K	possibly damaging	Het
Scrib	A	G	15: 75,939,004 (GRCm39)	S165P	probably damaging	Het
Sdk1	A	T	5: 142,197,713 (GRCm39)	H2122L	possibly damaging	Het
Sec24b	A	T	3: 129,834,599 (GRCm39)	F200I	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,964 (GRCm39)	V226A	possibly damaging	Het
Sik1	T	A	17: 32,070,286 (GRCm39)	H141L	probably damaging	Het
Slc9a5	A	T	8: 106,089,956 (GRCm39)	E638V	probably damaging	Het
Slco1a5	A	G	6: 142,221,202 (GRCm39)	C15R	probably benign	Het
Slit1	C	T	19: 41,612,959 (GRCm39)	D854N	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tec	A	T	5: 72,921,602 (GRCm39)	M372K	probably benign	Het
Tlr2	A	G	3: 83,745,373 (GRCm39)	F237L	probably benign	Het
Trio	A	T	15: 27,819,055 (GRCm39)	L1597Q	probably damaging	Het
Trpa1	A	T	1: 14,957,247 (GRCm39)	M723K	probably damaging	Het
Ttc21a	T	C	9: 119,783,694 (GRCm39)	I592T	probably benign	Het
Vmn2r94	T	C	17: 18,463,986 (GRCm39)	E768G	probably damaging	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zpld1	A	G	16: 55,047,295 (GRCm39)		probably null	Het

Other mutations in Klhl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0144:Klhl8	UTSW	5	104,015,804 (GRCm39)	missense	probably benign	0.45
R0718:Klhl8	UTSW	5	104,024,159 (GRCm39)	intron	probably benign
R1374:Klhl8	UTSW	5	104,011,049 (GRCm39)	missense	probably damaging	1.00
R1662:Klhl8	UTSW	5	104,019,911 (GRCm39)	missense	probably damaging	0.96
R4440:Klhl8	UTSW	5	104,015,433 (GRCm39)	missense	probably benign	0.00
R6406:Klhl8	UTSW	5	104,010,981 (GRCm39)	missense	possibly damaging	0.87
R6961:Klhl8	UTSW	5	104,018,435 (GRCm39)	missense	possibly damaging	0.92
R7807:Klhl8	UTSW	5	104,023,932 (GRCm39)	missense	probably damaging	1.00
R7863:Klhl8	UTSW	5	104,019,968 (GRCm39)	missense	probably benign
R8240:Klhl8	UTSW	5	104,015,392 (GRCm39)	missense	probably damaging	0.97
R8241:Klhl8	UTSW	5	104,015,392 (GRCm39)	missense	probably damaging	0.97
R8278:Klhl8	UTSW	5	104,022,107 (GRCm39)	missense	probably benign	0.00
R8297:Klhl8	UTSW	5	104,010,954 (GRCm39)	missense	probably benign	0.23
R8504:Klhl8	UTSW	5	104,015,814 (GRCm39)	missense	probably benign	0.30
R8539:Klhl8	UTSW	5	104,015,392 (GRCm39)	missense	probably damaging	0.97
R8991:Klhl8	UTSW	5	104,018,404 (GRCm39)	missense	probably benign	0.03
R9051:Klhl8	UTSW	5	104,015,709 (GRCm39)	critical splice donor site	probably null
R9176:Klhl8	UTSW	5	104,012,111 (GRCm39)	missense	probably benign	0.00
R9183:Klhl8	UTSW	5	104,012,111 (GRCm39)	missense	probably benign	0.00
Z1177:Klhl8	UTSW	5	104,033,905 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCACATCTCAGGACTGATCC -3'
(R):5'- CAGCCGCAGCATTGATTAC -3'

Sequencing Primer
(F):5'- GGACTGATCCACTAAAGGTTGAC -3'
(R):5'- GCAGCATTGATTACCTACCAAAGTG -3'

Posted On

2020-07-13