Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Klhdc10'

651584

Institutional Source

Beutler Lab

Gene Symbol

Klhdc10

Ensembl Gene

ENSMUSG00000029775

Gene Name

kelch domain containing 10

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30401868-30455179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30446691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 282 (S282P)

Ref Sequence

ENSEMBL: ENSMUSP00000069669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068240] [ENSMUST00000068259] [ENSMUST00000123494] [ENSMUST00000132581] [ENSMUST00000135566] [ENSMUST00000144272]

AlphaFold

Q6PAR0

Predicted Effect

probably benign
Transcript: ENSMUST00000068240
AA Change: S253P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: S253P

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
Pfam:Kelch_5	56	107	3.6e-7	PFAM
Pfam:Kelch_1	59	114	5.6e-8	PFAM
Pfam:Kelch_4	59	120	1.8e-7	PFAM
Pfam:Kelch_6	59	120	2.1e-8	PFAM
Pfam:Kelch_4	173	222	9.8e-9	PFAM
Pfam:Kelch_6	173	225	3.9e-9	PFAM
Pfam:Kelch_2	174	218	1.2e-7	PFAM
Pfam:Kelch_1	174	219	9.4e-8	PFAM
Kelch	239	294	4.93e0	SMART
Kelch	295	342	9.96e-4	SMART
low complexity region	373	384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068259
AA Change: S282P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: S282P

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
Pfam:Kelch_5	85	135	1.2e-7	PFAM
Pfam:Kelch_1	88	143	2.6e-8	PFAM
Pfam:Kelch_4	88	149	1.5e-6	PFAM
Pfam:Kelch_6	88	150	3.1e-8	PFAM
Pfam:Kelch_6	202	255	4.6e-9	PFAM
Pfam:Kelch_2	203	247	1.4e-7	PFAM
Pfam:Kelch_1	203	248	2.6e-6	PFAM
Kelch	268	323	4.93e0	SMART
Kelch	324	371	9.96e-4	SMART
low complexity region	402	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123494
AA Change: S142P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145442
Gene: ENSMUSG00000029775
AA Change: S142P

Domain	Start	End	E-Value	Type
Pfam:Kelch_4	62	110	1.2e-4	PFAM
Pfam:Kelch_6	62	115	5.2e-8	PFAM
Pfam:Kelch_2	63	107	1.6e-6	PFAM
Pfam:Kelch_1	63	108	3.1e-5	PFAM
Pfam:Kelch_1	116	157	2.1e-6	PFAM
Pfam:Kelch_6	116	157	8.8e-6	PFAM
Pfam:Kelch_4	122	157	3.7e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132581
AA Change: S200P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775
AA Change: S200P

Domain	Start	End	E-Value	Type
low complexity region	3	35	N/A	INTRINSIC
Pfam:Kelch_2	121	165	1.1e-6	PFAM
Pfam:Kelch_6	121	173	2.4e-8	PFAM
Pfam:Kelch_1	123	166	2.1e-5	PFAM
Pfam:Kelch_4	123	168	9.8e-5	PFAM
Kelch	186	241	1.7e-2	SMART
Kelch	242	289	3.3e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135566

SMART Domains

Protein: ENSMUSP00000144878
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
Blast:Kelch	1	21	4e-6	BLAST
SCOP:d1k3ia3	7	51	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144272
AA Change: S142P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: S142P

Domain	Start	End	E-Value	Type
Pfam:Kelch_4	62	110	3.5e-4	PFAM
Pfam:Kelch_6	62	115	1.6e-7	PFAM
Pfam:Kelch_2	63	107	4.8e-6	PFAM
Pfam:Kelch_1	63	108	9.1e-5	PFAM
Kelch	128	183	1.7e-2	SMART
Kelch	184	231	3.3e-6	SMART
low complexity region	262	273	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	Het

Other mutations in Klhdc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Klhdc10	APN	6	30441934	splice site	probably null
IGL02313:Klhdc10	APN	6	30439866	critical splice donor site	probably null
IGL03353:Klhdc10	APN	6	30447992	splice site	probably benign
PIT4378001:Klhdc10	UTSW	6	30447412	missense	probably damaging	0.98
R0379:Klhdc10	UTSW	6	30450670	missense	possibly damaging	0.89
R0390:Klhdc10	UTSW	6	30447412	missense	probably damaging	0.98
R1199:Klhdc10	UTSW	6	30449494	missense	probably damaging	1.00
R1628:Klhdc10	UTSW	6	30444462	missense	probably damaging	0.98
R2243:Klhdc10	UTSW	6	30449559	missense	probably damaging	1.00
R2861:Klhdc10	UTSW	6	30402140	missense	unknown
R5007:Klhdc10	UTSW	6	30450641	missense	probably benign	0.05
R5574:Klhdc10	UTSW	6	30439865	missense	possibly damaging	0.92
R6428:Klhdc10	UTSW	6	30439856	missense	probably damaging	1.00
R6724:Klhdc10	UTSW	6	30446641	missense	probably damaging	0.99
R6842:Klhdc10	UTSW	6	30439782	missense	probably damaging	1.00
R6879:Klhdc10	UTSW	6	30449590	missense	probably damaging	1.00
R7014:Klhdc10	UTSW	6	30450503	missense	probably damaging	1.00
R7124:Klhdc10	UTSW	6	30441827	missense	probably damaging	1.00
R7453:Klhdc10	UTSW	6	30447990	critical splice donor site	probably null
R9192:Klhdc10	UTSW	6	30449500	missense	probably damaging	0.99
R9747:Klhdc10	UTSW	6	30439860	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGAACTTCTGAGTGGATTAGCC -3'
(R):5'- AGCTCTGAGTGCAACCTTCTG -3'

Sequencing Primer
(F):5'- CAGTTCACTGCTGGTTAACACTTAG -3'
(R):5'- GAGTGCAACCTTCTGTCACAG -3'

Posted On

2020-09-15