Mutagenetix > Incidental Mutation

Incidental Mutation 'R9713:Klrh1'

730308

Institutional Source

Beutler Lab

Gene Symbol

Klrh1

Ensembl Gene

ENSMUSG00000071158

Gene Name

killer cell lectin-like receptor subfamily H, member 1

Synonyms

LOC232415, Gm156

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R9713 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129743531-129761233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129752359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 52 (V52A)

Ref Sequence

ENSEMBL: ENSMUSP00000093058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095409] [ENSMUST00000118532]

AlphaFold

Q58A37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095409
AA Change: V52A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093058
Gene: ENSMUSG00000071158
AA Change: V52A

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
transmembrane domain	36	58	N/A	INTRINSIC
CLECT	100	215	2.91e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118532
AA Change: V52A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113766
Gene: ENSMUSG00000071158
AA Change: V52A

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
transmembrane domain	36	58	N/A	INTRINSIC
CLECT	100	178	1.85e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	T	14: 41,820,060 (GRCm39)	I107F	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,528,556 (GRCm39)	I277N	probably damaging	Het
Atp11b	A	T	3: 35,885,560 (GRCm39)	Y851F	probably damaging	Het
Cdhr1	A	G	14: 36,801,751 (GRCm39)	S731P	probably damaging	Het
Csf2rb2	A	G	15: 78,176,730 (GRCm39)	S221P	possibly damaging	Het
Dact3	A	T	7: 16,620,292 (GRCm39)	I596F	unknown	Het
Eya4	A	T	10: 23,027,870 (GRCm39)	Y287*	probably null	Het
Folr2	T	C	7: 101,489,809 (GRCm39)	D153G	probably benign	Het
Gal3st2b	A	T	1: 93,866,409 (GRCm39)	I37L	probably benign	Het
H2ac8	G	A	13: 23,755,041 (GRCm39)	P81L	probably damaging	Het
Hectd1	A	G	12: 51,823,328 (GRCm39)	M1027T	probably benign	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hsd17b2	A	T	8: 118,485,342 (GRCm39)		probably null	Het
Igkv4-74	A	G	6: 69,161,993 (GRCm39)	Y59H	probably damaging	Het
Ilvbl	T	C	10: 78,412,489 (GRCm39)	V70A	probably benign	Het
Ly9	A	C	1: 171,428,756 (GRCm39)	I288S	probably damaging	Het
Muc5b	A	G	7: 141,416,678 (GRCm39)	E3208G	probably benign	Het
Myo1b	G	A	1: 51,818,766 (GRCm39)	T503I	possibly damaging	Het
Ntm	T	A	9: 29,090,327 (GRCm39)	I131F	possibly damaging	Het
Odad1	T	G	7: 45,578,562 (GRCm39)	V45G	probably damaging	Het
Or1p4-ps1	A	G	11: 74,208,078 (GRCm39)	T76A	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,633 (GRCm39)	*317Q	probably null	Het
Or52ae7	C	T	7: 103,119,914 (GRCm39)	L223F	possibly damaging	Het
Or5b108	A	T	19: 13,168,727 (GRCm39)	Y232F	probably benign	Het
Or8k38	T	C	2: 86,488,041 (GRCm39)	T254A	possibly damaging	Het
Pbrm1	T	C	14: 30,828,123 (GRCm39)	S1317P	probably damaging	Het
Spaca6	T	A	17: 18,058,498 (GRCm39)	Y39*	probably null	Het
Spen	G	A	4: 141,244,331 (GRCm39)	R235C	unknown	Het
Sycp2l	C	A	13: 41,326,183 (GRCm39)	A746D	probably damaging	Het
Tgm3	A	G	2: 129,867,229 (GRCm39)	E158G	possibly damaging	Het
Trim26	A	T	17: 37,168,307 (GRCm39)	D324V	probably damaging	Het
Ttc9b	T	C	7: 27,353,475 (GRCm39)	S42P	probably benign	Het
Ttn	C	A	2: 76,682,434 (GRCm39)	E952*	probably null	Het
Ulk4	C	A	9: 120,873,862 (GRCm39)	E1190*	probably null	Het
Vmn1r85	A	T	7: 12,818,458 (GRCm39)	S229T	probably damaging	Het
Wwc1	C	A	11: 35,766,576 (GRCm39)	A560S	probably benign	Het
Zfp787	A	G	7: 6,146,059 (GRCm39)		probably null	Het

Other mutations in Klrh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0844:Klrh1	UTSW	6	129,752,756 (GRCm39)	missense	possibly damaging	0.92
R1498:Klrh1	UTSW	6	129,748,703 (GRCm39)	missense	probably damaging	0.98
R1581:Klrh1	UTSW	6	129,752,796 (GRCm39)	missense	probably benign	0.01
R1866:Klrh1	UTSW	6	129,752,343 (GRCm39)	critical splice donor site	probably null
R1967:Klrh1	UTSW	6	129,752,798 (GRCm39)	missense	possibly damaging	0.83
R2289:Klrh1	UTSW	6	129,745,140 (GRCm39)	missense	probably null	0.04
R2384:Klrh1	UTSW	6	129,749,343 (GRCm39)	missense	probably benign
R5192:Klrh1	UTSW	6	129,748,721 (GRCm39)	missense	probably benign	0.15
R5199:Klrh1	UTSW	6	129,752,781 (GRCm39)	missense	possibly damaging	0.68
R6124:Klrh1	UTSW	6	129,745,098 (GRCm39)	missense	probably benign	0.05
R6290:Klrh1	UTSW	6	129,743,658 (GRCm39)	missense	probably benign	0.01
R7084:Klrh1	UTSW	6	129,743,673 (GRCm39)	missense	possibly damaging	0.51
R7472:Klrh1	UTSW	6	129,752,345 (GRCm39)	missense	probably benign	0.09
R7546:Klrh1	UTSW	6	129,749,343 (GRCm39)	missense	probably benign	0.00
R8077:Klrh1	UTSW	6	129,743,658 (GRCm39)	missense	probably benign	0.01
R8246:Klrh1	UTSW	6	129,752,339 (GRCm39)	splice site	probably benign
R8924:Klrh1	UTSW	6	129,745,084 (GRCm39)	missense	probably benign	0.01
R9057:Klrh1	UTSW	6	129,752,803 (GRCm39)	start codon destroyed	probably benign	0.09
R9112:Klrh1	UTSW	6	129,743,697 (GRCm39)	missense	probably benign	0.31
X0026:Klrh1	UTSW	6	129,745,125 (GRCm39)	missense	probably damaging	1.00
Z1088:Klrh1	UTSW	6	129,749,426 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCAGTTTAAGAAGCACACTG -3'
(R):5'- GCACAGCTGAAATTATCCAAGAAG -3'

Sequencing Primer
(F):5'- GCACACTGAAATTTTACACATTGAC -3'
(R):5'- GTGTGTGTGCAGAAAACATAATATC -3'

Posted On

2022-10-06