Mutagenetix > Incidental Mutation

Incidental Mutation 'R5574:Klhdc10'

484566

Institutional Source

Beutler Lab

Gene Symbol

Klhdc10

Ensembl Gene

ENSMUSG00000029775

Gene Name

kelch domain containing 10

Synonyms

2410127E18Rik

MMRRC Submission

043129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30401867-30455178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30439864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 127 (L127F)

Ref Sequence

ENSEMBL: ENSMUSP00000064594 (fasta)

Gene Model

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

AlphaFold

Q6PAR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068240
AA Change: L127F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: L127F

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

possibly damaging
Transcript: ENSMUST00000068259
AA Change: L156F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: L156F

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: L16F

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145442
Gene: ENSMUSG00000029775
AA Change: L16F

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

silent
Transcript: ENSMUST00000132581

SMART Domains

Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775

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
AA Change: L16F

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144878
Gene: ENSMUSG00000029775
AA Change: L16F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144272
AA Change: L16F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: L16F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150854

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,380,205 (GRCm39)	N31I	possibly damaging	Het
Acvr1b	T	A	15: 101,099,958 (GRCm39)	M304K	probably benign	Het
Adamts1	G	T	16: 85,596,530 (GRCm39)	D106E	probably damaging	Het
Atosa	A	T	9: 74,917,672 (GRCm39)	D757V	probably damaging	Het
Blm	C	A	7: 80,149,521 (GRCm39)	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,267,119 (GRCm39)		noncoding transcript	Het
Ccdc171	A	T	4: 83,611,990 (GRCm39)	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,870,527 (GRCm39)		probably benign	Het
Cfap97	T	C	8: 46,623,179 (GRCm39)	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,684,509 (GRCm39)		probably benign	Het
Clns1a	A	G	7: 97,370,165 (GRCm39)		probably benign	Het
Col8a2	G	A	4: 126,205,061 (GRCm39)		probably benign	Het
Cr2	T	A	1: 194,823,544 (GRCm39)	E721V	probably damaging	Het
Csk	A	G	9: 57,536,584 (GRCm39)	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,520,165 (GRCm39)	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 33,148,179 (GRCm39)	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,147,685 (GRCm39)	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,063,994 (GRCm39)	T113S	probably benign	Het
Edem2	T	C	2: 155,558,075 (GRCm39)	E186G	probably damaging	Het
Eya2	G	A	2: 165,605,736 (GRCm39)	R380H	probably damaging	Het
Gldn	A	G	9: 54,220,206 (GRCm39)	T132A	probably damaging	Het
Gm13941	A	T	2: 110,930,951 (GRCm39)	I74K	unknown	Het
Gm3898	C	T	9: 43,741,339 (GRCm39)		noncoding transcript	Het
Ighmbp2	C	T	19: 3,321,536 (GRCm39)	V408I	probably benign	Het
Letm1	G	A	5: 33,926,730 (GRCm39)	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,775,355 (GRCm39)	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,671,219 (GRCm39)	V2000E	probably damaging	Het
Mettl9	A	T	7: 120,647,093 (GRCm39)	E66D	probably benign	Het
Mroh1	T	A	15: 76,318,131 (GRCm39)	V877D	probably benign	Het
Mycbp2	C	T	14: 103,380,203 (GRCm39)	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,573,859 (GRCm39)	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Obp2a	A	T	2: 25,590,842 (GRCm39)	T70S	possibly damaging	Het
Or4a72	C	T	2: 89,405,321 (GRCm39)	V250I	possibly damaging	Het
Or52a5b	T	G	7: 103,417,323 (GRCm39)	I94L	possibly damaging	Het
Or5al6	T	C	2: 85,976,535 (GRCm39)	D181G	probably damaging	Het
Or8b8	A	T	9: 37,808,877 (GRCm39)	Y59F	probably damaging	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pate2	A	G	9: 35,597,411 (GRCm39)		probably benign	Het
Pdzph1	A	G	17: 59,280,942 (GRCm39)	F447L	probably benign	Het
Pias1	A	G	9: 62,827,775 (GRCm39)	C211R	probably damaging	Het
Plb1	A	G	5: 32,487,291 (GRCm39)	S929G	probably benign	Het
Pramel32	T	G	4: 88,546,280 (GRCm39)	E354A	probably benign	Het
Prc1	G	A	7: 79,944,290 (GRCm39)		probably benign	Het
Prex2	A	G	1: 11,210,282 (GRCm39)	D574G	probably damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rmc1	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,318,063 (GRCm39)		probably null	Het
Rock2	T	C	12: 17,011,642 (GRCm39)	M690T	possibly damaging	Het
Sinhcaf	C	T	6: 148,846,378 (GRCm39)		probably benign	Het
Slc18a2	A	G	19: 59,249,837 (GRCm39)	I25V	probably benign	Het
Slc9a5	T	A	8: 106,091,323 (GRCm39)	I701K	probably benign	Het
Sorcs1	T	A	19: 50,210,571 (GRCm39)	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,340,941 (GRCm39)	I698L	probably benign	Het
Stam	A	G	2: 14,120,675 (GRCm39)	D58G	probably damaging	Het
Thsd4	C	A	9: 59,879,683 (GRCm39)	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,929,998 (GRCm39)	T2911A	probably benign	Het
Trpm7	A	C	2: 126,654,950 (GRCm39)	F1329L	probably benign	Het
Ttll9	A	G	2: 152,826,168 (GRCm39)	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Unc45a	G	A	7: 79,984,604 (GRCm39)	A232V	probably damaging	Het
Utp14b	G	A	1: 78,644,126 (GRCm39)	V675M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,099 (GRCm39)	H279L	probably benign	Het
Vmn2r75	G	T	7: 85,815,510 (GRCm39)	A118E	probably benign	Het
Wdr36	A	T	18: 32,999,012 (GRCm39)	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,555,125 (GRCm39)	Y27*	probably null	Het
Zfp715	A	T	7: 42,960,463 (GRCm39)	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,286,698 (GRCm39)	S2297P	possibly damaging	Het

Other mutations in Klhdc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Klhdc10	APN	6	30,441,933 (GRCm39)	splice site	probably null
IGL02313:Klhdc10	APN	6	30,439,865 (GRCm39)	critical splice donor site	probably null
IGL03353:Klhdc10	APN	6	30,447,991 (GRCm39)	splice site	probably benign
PIT4378001:Klhdc10	UTSW	6	30,447,411 (GRCm39)	missense	probably damaging	0.98
R0379:Klhdc10	UTSW	6	30,450,669 (GRCm39)	missense	possibly damaging	0.89
R0390:Klhdc10	UTSW	6	30,447,411 (GRCm39)	missense	probably damaging	0.98
R1199:Klhdc10	UTSW	6	30,449,493 (GRCm39)	missense	probably damaging	1.00
R1628:Klhdc10	UTSW	6	30,444,461 (GRCm39)	missense	probably damaging	0.98
R2243:Klhdc10	UTSW	6	30,449,558 (GRCm39)	missense	probably damaging	1.00
R2861:Klhdc10	UTSW	6	30,402,139 (GRCm39)	missense	unknown
R5007:Klhdc10	UTSW	6	30,450,640 (GRCm39)	missense	probably benign	0.05
R6428:Klhdc10	UTSW	6	30,439,855 (GRCm39)	missense	probably damaging	1.00
R6724:Klhdc10	UTSW	6	30,446,640 (GRCm39)	missense	probably damaging	0.99
R6842:Klhdc10	UTSW	6	30,439,781 (GRCm39)	missense	probably damaging	1.00
R6879:Klhdc10	UTSW	6	30,449,589 (GRCm39)	missense	probably damaging	1.00
R7014:Klhdc10	UTSW	6	30,450,502 (GRCm39)	missense	probably damaging	1.00
R7124:Klhdc10	UTSW	6	30,441,826 (GRCm39)	missense	probably damaging	1.00
R7453:Klhdc10	UTSW	6	30,447,989 (GRCm39)	critical splice donor site	probably null
R7988:Klhdc10	UTSW	6	30,446,690 (GRCm39)	missense	probably benign
R9192:Klhdc10	UTSW	6	30,449,499 (GRCm39)	missense	probably damaging	0.99
R9747:Klhdc10	UTSW	6	30,439,859 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TCTTTAGGCCACAGACCTCC -3'
(R):5'- GCAGCGATTCAGAGTCATTACAC -3'

Sequencing Primer
(F):5'- CGTTGTGTGGCAGACAATACCAATC -3'
(R):5'- CATTACACTGTATTATCACCACAGTG -3'

Posted On

2017-08-14