Mutagenetix > Incidental Mutation

Incidental Mutation 'R9183:Klhl8'

697173

Institutional Source

Beutler Lab

Gene Symbol

Klhl8

Ensembl Gene

ENSMUSG00000029312

Gene Name

kelch-like 8

Synonyms

D5Ertd431e, 2310001P09Rik

MMRRC Submission

068950-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104009916-104059137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104012111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 575 (A575S)

Ref Sequence

ENSEMBL: ENSMUSP00000031254 (fasta)

Gene Model

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

AlphaFold

P59280

Predicted Effect

probably benign
Transcript: ENSMUST00000031254
AA Change: A575S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000031254
Gene: ENSMUSG00000029312
AA Change: A575S

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

probably benign
Transcript: ENSMUST00000112811
AA Change: A392S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000108430
Gene: ENSMUSG00000029312
AA Change: A392S

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: A499S

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108434
Gene: ENSMUSG00000029312
AA Change: A499S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,559 (GRCm38)	C313R	probably damaging	Het
Adap2	A	G	11: 80,045,882 (GRCm39)	N54S	probably damaging	Het
Adcy8	T	C	15: 64,694,116 (GRCm39)	D387G	probably damaging	Het
Adgra1	G	A	7: 139,455,716 (GRCm39)	R448Q	probably benign	Het
Antxr1	A	T	6: 87,264,025 (GRCm39)	D148E	probably damaging	Het
Ap3d1	A	T	10: 80,545,627 (GRCm39)	V1034E	probably null	Het
Arpp21	C	T	9: 111,895,066 (GRCm39)	A731T	probably benign	Het
Asl	T	A	5: 130,042,312 (GRCm39)	R255W	probably damaging	Het
Asxl1	T	A	2: 153,239,840 (GRCm39)	S544T	probably damaging	Het
Atp8a1	A	C	5: 67,924,378 (GRCm39)	Y329D		Het
Calcr	A	T	6: 3,711,463 (GRCm39)	I186N	probably damaging	Het
Cdh18	T	C	15: 23,227,065 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,706,595 (GRCm39)	L1026P	probably damaging	Het
Ces2a	T	A	8: 105,460,774 (GRCm39)	V24E	possibly damaging	Het
Clybl	T	C	14: 122,639,387 (GRCm39)	I317T	probably damaging	Het
Col13a1	T	A	10: 61,699,758 (GRCm39)	T476S	unknown	Het
Cyp4f15	T	C	17: 32,919,205 (GRCm39)	S343P	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,112 (GRCm39)	T263A	probably benign	Het
Fbxo28	A	G	1: 182,157,526 (GRCm39)	V97A	possibly damaging	Het
Frem2	C	T	3: 53,427,486 (GRCm39)	V2889I	probably damaging	Het
Garnl3	T	C	2: 32,895,080 (GRCm39)	E663G	probably damaging	Het
Gen1	T	A	12: 11,299,186 (GRCm39)	K338M	probably damaging	Het
Gfi1	A	G	5: 107,873,819 (GRCm39)		probably null	Het
Gfod2	A	G	8: 106,449,653 (GRCm39)	S95P	probably benign	Het
H2-T13	T	A	17: 36,392,382 (GRCm39)	H31L	unknown	Het
Heatr1	A	G	13: 12,436,266 (GRCm39)	Q1224R	probably damaging	Het
Hectd4	A	G	5: 121,437,551 (GRCm39)	K1059E	possibly damaging	Het
Hmgcs2	C	T	3: 98,198,232 (GRCm39)	A45V	possibly damaging	Het
Hnmt	C	A	2: 23,893,655 (GRCm39)	V280L	probably benign	Het
Ifi35	G	T	11: 101,348,091 (GRCm39)	V66L	probably benign	Het
Kcnn2	T	C	18: 45,694,379 (GRCm39)	I188T	probably damaging	Het
Krt6a	T	C	15: 101,601,446 (GRCm39)	D225G	probably benign	Het
Lrtm2	T	C	6: 119,294,384 (GRCm39)	Y249C	probably damaging	Het
Med12l	C	T	3: 58,984,498 (GRCm39)	R479C	probably damaging	Het
Muc5ac	A	T	7: 141,352,637 (GRCm39)	Y709F	possibly damaging	Het
Nsd2	G	A	5: 34,028,796 (GRCm39)	A162T	probably damaging	Het
Or6c38	A	G	10: 128,929,201 (GRCm39)	M214T	probably benign	Het
Phaf1	C	A	8: 105,957,840 (GRCm39)	Q49K	probably benign	Het
Polr2h	T	C	16: 20,539,285 (GRCm39)	Y90H	possibly damaging	Het
Prkaa1	A	T	15: 5,205,969 (GRCm39)	E275V	probably damaging	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rhcg	A	T	7: 79,244,564 (GRCm39)	L496*	probably null	Het
Rnf213	A	G	11: 119,318,448 (GRCm39)	E1084G		Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Slc14a1	T	A	18: 78,154,598 (GRCm39)	I263F	probably benign	Het
Slc40a1	C	T	1: 45,948,671 (GRCm39)	M536I	possibly damaging	Het
Slco6c1	T	A	1: 96,996,775 (GRCm39)		probably null	Het
Stk32a	T	C	18: 43,394,405 (GRCm39)	F118S	probably damaging	Het
Sytl1	G	T	4: 132,980,934 (GRCm39)	R467S	possibly damaging	Het
Thbs2	T	C	17: 14,896,526 (GRCm39)	I788V	probably benign	Het
Tmed6	T	A	8: 107,788,390 (GRCm39)	R186*	probably null	Het
Trnau1ap	G	A	4: 132,052,565 (GRCm39)	R78C	probably damaging	Het
Trpv1	A	T	11: 73,135,039 (GRCm39)	D412V	possibly damaging	Het
Ttc16	C	T	2: 32,647,329 (GRCm39)	V688M	probably benign	Het
Ubr5	C	A	15: 37,997,420 (GRCm39)	L1738F		Het
Vmn2r89	A	G	14: 51,692,501 (GRCm39)	I101M	probably benign	Het
Wdr27	C	T	17: 15,148,651 (GRCm39)	R114Q	possibly damaging	Het
Wdr48	A	G	9: 119,749,730 (GRCm39)	H563R	possibly damaging	Het
Wdr49	A	C	3: 75,205,419 (GRCm39)	S666A	probably benign	Het
Wwox	T	C	8: 115,433,110 (GRCm39)	S259P	probably damaging	Het
Zfp160	T	A	17: 21,240,354 (GRCm39)	D12E	possibly damaging	Het
Zfp800	A	G	6: 28,243,172 (GRCm39)	Y598H	probably benign	Het
Zfp970	T	C	2: 177,167,536 (GRCm39)	L370P	probably damaging	Het
Zmat5	A	T	11: 4,672,431 (GRCm39)	D16V	probably damaging	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
R8217:Klhl8	UTSW	5	104,015,466 (GRCm39)	missense	possibly damaging	0.51
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
Z1177:Klhl8	UTSW	5	104,033,905 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGTGTCAACAGGCAAAGC -3'
(R):5'- AAAGCTGGAGTTTTATAAGCCGTTG -3'

Sequencing Primer
(F):5'- AGCCCAGCTTTAGATGTAAGG -3'
(R):5'- ATAAGCCGTTGAGTTGAGATTTAG -3'

Posted On

2022-02-07