Mutagenetix > Incidental Mutation

Incidental Mutation 'R6049:D7Ertd443e'

483447

Institutional Source

Beutler Lab

Gene Symbol

D7Ertd443e

Ensembl Gene

ENSMUSG00000030994

Gene Name

DNA segment, Chr 7, ERATO Doi 443, expressed

Synonyms

4933400E14Rik

MMRRC Submission

044217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133867508-134102889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133899961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 420 (H420R)

Ref Sequence

ENSEMBL: ENSMUSP00000091539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000106129] [ENSMUST00000172947] [ENSMUST00000174700]

AlphaFold

D2J0Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000094002
AA Change: H420R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: H420R

Domain	Start	End	E-Value	Type
low complexity region	179	192	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	279	292	N/A	INTRINSIC
low complexity region	396	410	N/A	INTRINSIC
low complexity region	478	494	N/A	INTRINSIC
Pfam:ALMS_motif	511	644	3.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106129
AA Change: H61R

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

SMART Domains

Protein: ENSMUSP00000101735
Gene: ENSMUSG00000030994
AA Change: H61R

Domain	Start	End	E-Value	Type
low complexity region	37	51	N/A	INTRINSIC
low complexity region	119	135	N/A	INTRINSIC
Pfam:ALMS_motif	152	285	7.4e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172947
AA Change: H467R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: H467R

Domain	Start	End	E-Value	Type
low complexity region	226	239	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
low complexity region	443	457	N/A	INTRINSIC
low complexity region	525	541	N/A	INTRINSIC
Pfam:ALMS_motif	559	689	1.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174700

SMART Domains

Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994

Domain	Start	End	E-Value	Type
Pfam:ALMS_motif	25	98	2.3e-12	PFAM

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,088,520 (GRCm39)	H229Y	probably benign	Het
Aadacl2fm2	A	C	3: 59,659,570 (GRCm39)	D341A	probably damaging	Het
Abcd2	A	G	15: 91,062,439 (GRCm39)	F500L	probably benign	Het
Adgb	A	G	10: 10,253,770 (GRCm39)	L1190P	probably damaging	Het
Adgrv1	A	G	13: 81,545,473 (GRCm39)	V5604A	probably benign	Het
Ank2	T	A	3: 126,736,669 (GRCm39)	T3072S	possibly damaging	Het
Arhgap39	A	G	15: 76,611,601 (GRCm39)		probably null	Het
C6	T	C	15: 4,764,654 (GRCm39)	C117R	probably damaging	Het
Cacna1a	A	G	8: 85,365,475 (GRCm39)	E2206G	probably damaging	Het
Cd2bp2	A	T	7: 126,793,007 (GRCm39)	F338L	probably damaging	Het
Cemip2	A	T	19: 21,803,490 (GRCm39)	Q841L	probably benign	Het
Cngb1	T	C	8: 95,997,470 (GRCm39)	D575G	probably damaging	Het
Cplane2	T	A	4: 140,945,473 (GRCm39)	V108D	probably benign	Het
Crat	A	G	2: 30,293,553 (GRCm39)	F63S	probably damaging	Het
Crybg3	T	C	16: 59,364,417 (GRCm39)	T2402A	probably benign	Het
Ctsq	A	G	13: 61,186,572 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,361,564 (GRCm39)	R248G	probably damaging	Het
Deup1	A	G	9: 15,472,552 (GRCm39)	F587L	possibly damaging	Het
Dnah6	T	C	6: 73,063,149 (GRCm39)	K2651R	probably benign	Het
Dnah7b	A	G	1: 46,124,762 (GRCm39)	I144V	probably benign	Het
Dnajc1	T	C	2: 18,236,511 (GRCm39)		probably null	Het
Fscb	T	C	12: 64,521,094 (GRCm39)	N124S	possibly damaging	Het
Gabbr2	A	G	4: 46,787,641 (GRCm39)	Y341H	probably damaging	Het
Greb1	T	A	12: 16,731,395 (GRCm39)	I1648F	probably damaging	Het
Hace1	A	T	10: 45,562,758 (GRCm39)	N758Y	probably damaging	Het
Irs2	A	C	8: 11,056,805 (GRCm39)	D542E	probably benign	Het
Kat6a	T	A	8: 23,429,053 (GRCm39)	H1469Q	possibly damaging	Het
Kif15	G	A	9: 122,840,687 (GRCm39)	R36K	probably damaging	Het
Krt42	C	T	11: 100,157,886 (GRCm39)	V193M	probably damaging	Het
Limch1	A	T	5: 67,188,203 (GRCm39)	E878V	probably benign	Het
Med18	G	T	4: 132,187,024 (GRCm39)	D158E	probably benign	Het
Med6	T	C	12: 81,638,097 (GRCm39)	N38S	probably damaging	Het
Mup13	T	C	4: 61,183,596 (GRCm39)	T76A	probably benign	Het
Nlrp4b	T	A	7: 10,448,640 (GRCm39)	L281*	probably null	Het
Or5h23	A	T	16: 58,906,509 (GRCm39)	C112*	probably null	Het
Or7g28	C	A	9: 19,272,640 (GRCm39)	G4*	probably null	Het
Or9r3	A	T	10: 129,948,481 (GRCm39)	H59Q	probably benign	Het
Pde4d	A	T	13: 109,169,119 (GRCm39)	R54*	probably null	Het
Pdpk1	A	T	17: 24,317,109 (GRCm39)	Y251*	probably null	Het
Pdzk1	A	G	3: 96,758,979 (GRCm39)	E128G	probably benign	Het
Phf12	A	G	11: 77,918,996 (GRCm39)		probably null	Het
Pnliprp2	A	G	19: 58,748,884 (GRCm39)	E63G	possibly damaging	Het
Prkcd	T	C	14: 30,329,254 (GRCm39)	E62G	possibly damaging	Het
Prl7b1	G	T	13: 27,790,161 (GRCm39)	D77E	probably benign	Het
Rbck1	G	T	2: 152,165,094 (GRCm39)	C85*	probably null	Het
Rfx3	A	T	19: 27,779,795 (GRCm39)	M481K	probably damaging	Het
Rmdn3	A	G	2: 118,983,906 (GRCm39)	F159L	probably damaging	Het
Rpusd3	A	C	6: 113,394,802 (GRCm39)		probably null	Het
Ska1	T	C	18: 74,335,671 (GRCm39)	T100A	probably benign	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc27a6	T	A	18: 58,731,732 (GRCm39)	Y361N	probably damaging	Het
Smc1b	A	G	15: 85,005,896 (GRCm39)	L336S	probably damaging	Het
St7	A	G	6: 17,694,347 (GRCm39)	D46G	possibly damaging	Het
Supt5	A	G	7: 28,014,622 (GRCm39)	I1059T	probably benign	Het
Syne1	A	T	10: 5,297,926 (GRCm39)	S1124T	possibly damaging	Het
Szt2	A	G	4: 118,260,185 (GRCm39)	S54P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tbc1d7	A	C	13: 43,312,836 (GRCm39)	M19R	probably damaging	Het
Tbpl2	T	C	2: 23,985,004 (GRCm39)	N47D	possibly damaging	Het
Tgfbr3	C	T	5: 107,266,351 (GRCm39)	A790T	probably damaging	Het
Tnr	T	C	1: 159,740,324 (GRCm39)	V1166A	probably damaging	Het
Ttn	G	A	2: 76,676,654 (GRCm39)		probably benign	Het

Other mutations in D7Ertd443e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:D7Ertd443e	APN	7	133,951,129 (GRCm39)	missense	possibly damaging	0.56
R0369:D7Ertd443e	UTSW	7	133,899,866 (GRCm39)	missense	possibly damaging	0.56
R0501:D7Ertd443e	UTSW	7	133,896,701 (GRCm39)	missense	probably damaging	1.00
R1073:D7Ertd443e	UTSW	7	133,871,947 (GRCm39)	missense	probably damaging	1.00
R1083:D7Ertd443e	UTSW	7	133,950,663 (GRCm39)	nonsense	probably null
R1744:D7Ertd443e	UTSW	7	133,951,142 (GRCm39)	missense	probably benign	0.00
R1801:D7Ertd443e	UTSW	7	133,871,941 (GRCm39)	missense	probably damaging	1.00
R1807:D7Ertd443e	UTSW	7	133,895,034 (GRCm39)	missense	probably null	1.00
R2050:D7Ertd443e	UTSW	7	133,868,527 (GRCm39)	missense	probably damaging	1.00
R2273:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R2274:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R2504:D7Ertd443e	UTSW	7	133,951,208 (GRCm39)	splice site	probably null
R3699:D7Ertd443e	UTSW	7	133,950,797 (GRCm39)	missense	probably damaging	1.00
R4348:D7Ertd443e	UTSW	7	133,950,682 (GRCm39)	frame shift	probably null
R4516:D7Ertd443e	UTSW	7	133,895,057 (GRCm39)	missense	probably damaging	1.00
R5123:D7Ertd443e	UTSW	7	133,951,397 (GRCm39)	splice site	probably null
R5440:D7Ertd443e	UTSW	7	133,951,004 (GRCm39)	missense	probably damaging	0.96
R5555:D7Ertd443e	UTSW	7	133,951,320 (GRCm39)	missense	probably benign	0.00
R5711:D7Ertd443e	UTSW	7	133,951,110 (GRCm39)	missense	probably benign	0.43
R5848:D7Ertd443e	UTSW	7	133,951,451 (GRCm39)	missense	possibly damaging	0.92
R6266:D7Ertd443e	UTSW	7	133,951,514 (GRCm39)	missense	probably damaging	1.00
R6408:D7Ertd443e	UTSW	7	133,951,440 (GRCm39)	missense	probably benign	0.27
R6939:D7Ertd443e	UTSW	7	133,966,208 (GRCm39)	splice site	probably null
R7195:D7Ertd443e	UTSW	7	133,896,851 (GRCm39)	missense	probably damaging	1.00
R7352:D7Ertd443e	UTSW	7	133,951,123 (GRCm39)	missense	probably benign	0.03
R7737:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R7843:D7Ertd443e	UTSW	7	133,950,824 (GRCm39)	missense	possibly damaging	0.93
R7845:D7Ertd443e	UTSW	7	133,871,977 (GRCm39)	missense	probably damaging	1.00
R8346:D7Ertd443e	UTSW	7	133,950,485 (GRCm39)	missense	possibly damaging	0.63
R9120:D7Ertd443e	UTSW	7	133,871,986 (GRCm39)	missense	probably damaging	1.00
R9166:D7Ertd443e	UTSW	7	133,900,048 (GRCm39)	missense	probably benign	0.01
R9773:D7Ertd443e	UTSW	7	133,959,803 (GRCm39)	missense	probably benign	0.00
Z1088:D7Ertd443e	UTSW	7	133,896,711 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCCAGAAAGGCATTGAGC -3'
(R):5'- CATCAGGTACGCGAGAAGTC -3'

Sequencing Primer
(F):5'- CCCAGAAAGGCATTGAGCTATTTTC -3'
(R):5'- CGAGAAGTCGGCTCATCTAATAATG -3'

Posted On

2017-07-14