Mutagenetix > Incidental Mutation

Incidental Mutation 'R8747:D130040H23Rik'

663607

Institutional Source

Beutler Lab

Gene Symbol

D130040H23Rik

Ensembl Gene

ENSMUSG00000079038

Gene Name

RIKEN cDNA D130040H23 gene

Synonyms

MMRRC Submission

068618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69723732-69766859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69755705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 387 (N387K)

Ref Sequence

ENSEMBL: ENSMUSP00000148399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078257] [ENSMUST00000212549]

AlphaFold

Q8BII3

Predicted Effect

probably benign
Transcript: ENSMUST00000078257
AA Change: T370K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038
AA Change: T370K

Domain	Start	End	E-Value	Type
internal_repeat_1	2	170	4.27e-17	PROSPERO
internal_repeat_1	199	366	4.27e-17	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000212549
AA Change: N387K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,240 (GRCm39)	D190G	probably benign	Het
Abhd11	A	G	5: 135,040,760 (GRCm39)	I271V	possibly damaging	Het
Akap6	T	G	12: 53,188,999 (GRCm39)	S2138A	probably benign	Het
Amn	C	A	12: 111,241,440 (GRCm39)	P235H	probably damaging	Het
Arf2	A	T	11: 103,859,975 (GRCm39)	M18L	probably benign	Het
Asic2	A	T	11: 81,043,233 (GRCm39)	F20Y	possibly damaging	Het
Bok	T	C	1: 93,622,664 (GRCm39)		probably null	Het
Cachd1	T	A	4: 100,860,045 (GRCm39)		probably benign	Het
Casp8	A	G	1: 58,883,617 (GRCm39)	N308S	probably benign	Het
Cavin3	G	T	7: 105,131,154 (GRCm39)	H71Q	possibly damaging	Het
Ccdc87	A	G	19: 4,891,646 (GRCm39)	I713V	probably benign	Het
Clcn6	A	T	4: 148,093,354 (GRCm39)		probably null	Het
Cmas	T	C	6: 142,716,927 (GRCm39)	I273T	possibly damaging	Het
Ctxn3	A	T	18: 57,610,378 (GRCm39)	D65V	probably damaging	Het
Depp1	T	A	6: 116,629,122 (GRCm39)	L155Q	possibly damaging	Het
Dnah9	T	C	11: 65,818,816 (GRCm39)	K3174R	possibly damaging	Het
Ecpas	C	T	4: 58,828,632 (GRCm39)	V934I	probably damaging	Het
Efcab14	A	G	4: 115,603,793 (GRCm39)	N157S	probably damaging	Het
Ets1	G	A	9: 32,641,474 (GRCm39)	G109D	probably damaging	Het
Fbln5	G	A	12: 101,734,754 (GRCm39)	R173C	probably damaging	Het
Fchsd1	G	A	18: 38,096,035 (GRCm39)	P525L	probably benign	Het
Gmppa	G	A	1: 75,416,025 (GRCm39)	V156I	probably damaging	Het
Gtpbp1	A	G	15: 79,603,482 (GRCm39)	D182G		Het
Ift140	T	A	17: 25,254,809 (GRCm39)	S430T	probably benign	Het
Kat7	G	C	11: 95,185,392 (GRCm39)	C161W	probably damaging	Het
Lipk	T	A	19: 33,996,184 (GRCm39)	M32K	probably damaging	Het
Lum	A	T	10: 97,404,351 (GRCm39)	D82V	possibly damaging	Het
Macf1	C	A	4: 123,248,944 (GRCm39)	A7196S	probably damaging	Het
Mroh2b	T	A	15: 4,964,782 (GRCm39)	S926T	probably damaging	Het
Nbn	G	T	4: 15,981,555 (GRCm39)	R549I	probably damaging	Het
Nfu1	T	C	6: 86,996,400 (GRCm39)	I117T	probably damaging	Het
Or51f1	T	C	7: 102,506,139 (GRCm39)	T117A	probably benign	Het
Or7a39	A	G	10: 78,715,155 (GRCm39)	T50A	probably benign	Het
Parp1	T	C	1: 180,422,275 (GRCm39)	L778P	probably damaging	Het
Pbld2	G	T	10: 62,888,069 (GRCm39)	V125F	probably benign	Het
Prkag2	A	G	5: 25,085,680 (GRCm39)		probably null	Het
Prss54	A	G	8: 96,286,351 (GRCm39)	F241L	probably benign	Het
Rnf121	T	C	7: 101,678,316 (GRCm39)	D177G	probably damaging	Het
Slc12a7	G	A	13: 73,933,241 (GRCm39)	V100I	probably benign	Het
Slc28a1	C	T	7: 80,774,719 (GRCm39)	L189F	possibly damaging	Het
Slc35a3	T	C	3: 116,488,219 (GRCm39)	Q16R	probably damaging	Het
Snap91	A	G	9: 86,686,577 (GRCm39)	F354L	probably damaging	Het
Steap2	A	G	5: 5,723,539 (GRCm39)	I447T	probably benign	Het
Tagap	T	A	17: 8,147,602 (GRCm39)	I104N	probably damaging	Het
Tas1r2	A	G	4: 139,387,318 (GRCm39)	D259G	probably benign	Het
Tgm3	T	C	2: 129,886,452 (GRCm39)	S558P	probably benign	Het
Tuba3a	A	G	6: 125,258,018 (GRCm39)	V324A	probably damaging	Het
Vmn1r238	T	G	18: 3,123,232 (GRCm39)	I61L	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,451 (GRCm39)	T252A	probably benign	Het
Vmp1	A	G	11: 86,492,885 (GRCm39)	V308A	probably damaging	Het
Wdfy4	A	C	14: 32,874,611 (GRCm39)	V159G		Het
Zfp180	A	G	7: 23,804,687 (GRCm39)	T369A	possibly damaging	Het
Zfp827	A	G	8: 79,755,316 (GRCm39)	M1V	probably null	Het
Zmym4	A	G	4: 126,787,198 (GRCm39)	I1031T	probably damaging	Het

Other mutations in D130040H23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:D130040H23Rik	APN	8	69,753,422 (GRCm39)	missense	possibly damaging	0.59
R0164:D130040H23Rik	UTSW	8	69,755,195 (GRCm39)	missense	possibly damaging	0.61
R0164:D130040H23Rik	UTSW	8	69,755,195 (GRCm39)	missense	possibly damaging	0.61
R0269:D130040H23Rik	UTSW	8	69,753,446 (GRCm39)	missense	probably benign	0.00
R1534:D130040H23Rik	UTSW	8	69,755,378 (GRCm39)	missense	possibly damaging	0.62
R1565:D130040H23Rik	UTSW	8	69,755,812 (GRCm39)	makesense	probably null
R1648:D130040H23Rik	UTSW	8	69,755,633 (GRCm39)	missense	probably benign	0.04
R1869:D130040H23Rik	UTSW	8	69,755,354 (GRCm39)	missense	probably benign	0.22
R1870:D130040H23Rik	UTSW	8	69,755,354 (GRCm39)	missense	probably benign	0.22
R1871:D130040H23Rik	UTSW	8	69,755,354 (GRCm39)	missense	probably benign	0.22
R2025:D130040H23Rik	UTSW	8	69,755,525 (GRCm39)	missense	probably benign	0.29
R3418:D130040H23Rik	UTSW	8	69,755,579 (GRCm39)	missense	probably benign	0.27
R3810:D130040H23Rik	UTSW	8	69,755,022 (GRCm39)	missense	probably damaging	1.00
R3896:D130040H23Rik	UTSW	8	69,755,610 (GRCm39)	missense	probably damaging	1.00
R4477:D130040H23Rik	UTSW	8	69,755,155 (GRCm39)	missense	possibly damaging	0.95
R4478:D130040H23Rik	UTSW	8	69,755,155 (GRCm39)	missense	possibly damaging	0.95
R4479:D130040H23Rik	UTSW	8	69,755,155 (GRCm39)	missense	possibly damaging	0.95
R4480:D130040H23Rik	UTSW	8	69,755,155 (GRCm39)	missense	possibly damaging	0.95
R6849:D130040H23Rik	UTSW	8	69,755,303 (GRCm39)	nonsense	probably null
R7121:D130040H23Rik	UTSW	8	69,754,931 (GRCm39)	missense	probably damaging	0.99
R7821:D130040H23Rik	UTSW	8	69,752,887 (GRCm39)	splice site	probably null
R8269:D130040H23Rik	UTSW	8	69,755,800 (GRCm39)	missense	probably benign	0.00
R8946:D130040H23Rik	UTSW	8	69,755,033 (GRCm39)	missense	possibly damaging	0.70
R9095:D130040H23Rik	UTSW	8	69,755,748 (GRCm39)	frame shift	probably null
R9776:D130040H23Rik	UTSW	8	69,755,566 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTTGCATGTCACAGTCATC -3'
(R):5'- GTGGACACATCTCAGATTATTTTCTCC -3'

Sequencing Primer
(F):5'- GTCACAGTCATCTTCAAAGGCATG -3'
(R):5'- CCCTAGTAAATAATATTCTGTCCCGG -3'

Posted On

2021-03-08