Mutagenetix > Incidental Mutation

Incidental Mutation 'R0144:Klhl8'

22495

Institutional Source

Beutler Lab

Gene Symbol

Klhl8

Ensembl Gene

ENSMUSG00000029312

Gene Name

kelch-like 8

Synonyms

D5Ertd431e, 2310001P09Rik

MMRRC Submission

038429-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0144 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

104009916-104059137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104015804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 361 (S361R)

Ref Sequence

ENSEMBL: ENSMUSP00000108434 (fasta)

Gene Model

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

AlphaFold

P59280

Predicted Effect

probably benign
Transcript: ENSMUST00000031254
AA Change: S437R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000031254
Gene: ENSMUSG00000029312
AA Change: S437R

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: S254R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108430
Gene: ENSMUSG00000029312
AA Change: S254R

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

probably benign
Transcript: ENSMUST00000112815
AA Change: S361R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108434
Gene: ENSMUSG00000029312
AA Change: S361R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147184

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,652,739 (GRCm39)		probably null	Het
Acp6	T	A	3: 97,073,145 (GRCm39)		probably benign	Het
AI661453	A	T	17: 47,780,224 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,109,233 (GRCm39)	I674V	probably benign	Het
Armc2	A	T	10: 41,823,883 (GRCm39)		probably benign	Het
Atp8b1	G	C	18: 64,704,445 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,737,839 (GRCm39)	N1823K	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Brca1	A	T	11: 101,416,947 (GRCm39)	S396T	probably damaging	Het
Btnl6	G	T	17: 34,732,994 (GRCm39)	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797 (GRCm39)	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,656,417 (GRCm39)	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Ceacam15	G	T	7: 16,407,116 (GRCm39)	H134N	probably benign	Het
Cep170	T	C	1: 176,620,161 (GRCm39)	I46V	probably benign	Het
Cfap57	T	C	4: 118,441,902 (GRCm39)	D722G	probably damaging	Het
Col11a1	A	T	3: 113,907,243 (GRCm39)	D628V	unknown	Het
Csmd1	A	T	8: 16,441,838 (GRCm39)	V342E	probably benign	Het
Dennd1a	A	G	2: 38,016,652 (GRCm39)	V64A	probably damaging	Het
Dlec1	G	T	9: 118,971,934 (GRCm39)	G1345V	probably benign	Het
Dnah1	G	A	14: 30,989,831 (GRCm39)		probably benign	Het
Dock5	C	T	14: 68,023,735 (GRCm39)	G1142D	probably benign	Het
Etv2	C	A	7: 30,334,308 (GRCm39)	A142S	probably benign	Het
Fam110c	C	A	12: 31,124,500 (GRCm39)	T154K	unknown	Het
Fbxo17	C	G	7: 28,434,765 (GRCm39)	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,170,964 (GRCm39)	W681R	probably damaging	Het
Fig4	A	G	10: 41,134,045 (GRCm39)	Y413H	probably damaging	Het
Gab1	A	G	8: 81,511,830 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,510,411 (GRCm39)	M1T	probably null	Het
H2-M10.6	G	A	17: 37,123,133 (GRCm39)	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,889,751 (GRCm39)	D2432G	probably damaging	Het
Il13	T	C	11: 53,524,003 (GRCm39)	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,401,668 (GRCm39)	L479P	probably damaging	Het
Itpr2	T	A	6: 146,228,653 (GRCm39)	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,578,005 (GRCm39)	G427S	probably benign	Het
Kcnb1	T	G	2: 166,946,467 (GRCm39)	N794H	probably damaging	Het
Krt87	T	C	15: 101,336,542 (GRCm39)	Y37C	probably benign	Het
Lbp	A	T	2: 158,161,630 (GRCm39)	S231C	probably damaging	Het
Lpin2	A	G	17: 71,532,071 (GRCm39)	E142G	probably damaging	Het
Lrch4	G	A	5: 137,636,805 (GRCm39)		probably null	Het
Lypd11	A	G	7: 24,423,015 (GRCm39)	V101A	possibly damaging	Het
Manea	A	G	4: 26,340,719 (GRCm39)	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,316,849 (GRCm39)	T618A	probably benign	Het
Me3	A	G	7: 89,389,080 (GRCm39)	D128G	probably damaging	Het
Mix23	A	T	16: 35,905,484 (GRCm39)	N92I	possibly damaging	Het
Mug2	A	G	6: 122,047,970 (GRCm39)		probably benign	Het
Myo9b	A	T	8: 71,798,687 (GRCm39)	Q901L	probably damaging	Het
Nalcn	T	C	14: 123,608,948 (GRCm39)	R640G	probably damaging	Het
Nalcn	C	T	14: 123,647,251 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,283,421 (GRCm39)	N422S	probably damaging	Het
Nf1	T	A	11: 79,437,953 (GRCm39)	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,315,162 (GRCm39)	A358T	probably damaging	Het
Or52s1	A	T	7: 102,861,747 (GRCm39)	I216F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p62	T	C	7: 107,771,178 (GRCm39)	I258V	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pld5	T	C	1: 175,798,107 (GRCm39)	N431D	probably benign	Het
Prss28	G	A	17: 25,528,424 (GRCm39)	V16M	probably damaging	Het
Psmd2	T	A	16: 20,480,975 (GRCm39)		probably null	Het
Ptpn21	A	T	12: 98,654,868 (GRCm39)	S700T	probably benign	Het
Rasa2	A	T	9: 96,474,072 (GRCm39)	V152D	probably damaging	Het
Reln	G	T	5: 22,153,447 (GRCm39)	R2286S	probably damaging	Het
Rflnb	G	T	11: 75,915,789 (GRCm39)	P102Q	probably damaging	Het
Rin2	G	A	2: 145,718,559 (GRCm39)	V680I	probably damaging	Het
Rnf213	A	T	11: 119,370,426 (GRCm39)	K4742*	probably null	Het
Rpp40	A	T	13: 36,085,352 (GRCm39)	S143T	probably benign	Het
Rps12	A	G	10: 23,662,689 (GRCm39)	I51T	probably benign	Het
Rsf1	T	A	7: 97,285,614 (GRCm39)	W109R	probably damaging	Het
Sipa1l2	C	T	8: 126,176,615 (GRCm39)		probably null	Het
Tspan5	G	T	3: 138,604,109 (GRCm39)	V165L	probably damaging	Het
Uts2r	T	A	11: 121,052,291 (GRCm39)	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231 (GRCm39)	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,440 (GRCm39)	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,665 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,655,671 (GRCm39)	K766R	probably damaging	Het

Other mutations in Klhl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- GCAGGAAAACCAGTGTTTCACCAAC -3'
(R):5'- TGAGCCAAGTTTCCAGTAACCTGTG -3'

Sequencing Primer
(F):5'- GTTTCACCAACACTTTGGTAGG -3'
(R):5'- AGGCACACCCTTTGGAGATTATTC -3'

Posted On

2013-04-16