Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:D7Ertd443e'

507008

Institutional Source

Beutler Lab

Gene Symbol

D7Ertd443e

Ensembl Gene

ENSMUSG00000030994

Gene Name

DNA segment, Chr 7, ERATO Doi 443, expressed

Synonyms

4933400E14Rik

MMRRC Submission

044378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133867508-134102889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133951514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 53 (V53D)

Ref Sequence

ENSEMBL: ENSMUSP00000134479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000172947] [ENSMUST00000173195] [ENSMUST00000173754] [ENSMUST00000174700]

AlphaFold

D2J0Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094002
AA Change: V6D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: V6D

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 damaging
Transcript: ENSMUST00000172947
AA Change: V53D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: V53D

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 damaging
Transcript: ENSMUST00000173195
AA Change: V6D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173754
AA Change: V6D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174271

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,320,206 (GRCm39)	T295A	probably benign	Het
Aldh2	C	A	5: 121,706,997 (GRCm39)	V217L	probably damaging	Het
Arap3	G	A	18: 38,123,844 (GRCm39)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,977 (GRCm39)	L75R	probably damaging	Het
Blm	C	A	7: 80,149,688 (GRCm39)	K640N	probably benign	Het
Brap	A	T	5: 121,823,328 (GRCm39)	T487S	probably benign	Het
Ccser2	G	A	14: 36,601,632 (GRCm39)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,361,503 (GRCm39)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,738,647 (GRCm39)	S1097G	probably benign	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm39)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,773 (GRCm39)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,841,952 (GRCm39)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,350,442 (GRCm39)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,625,688 (GRCm39)	L116P	probably damaging	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fbxl12	A	T	9: 20,549,911 (GRCm39)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,426,683 (GRCm39)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,287,864 (GRCm39)	S1219P	probably benign	Het
Gm7298	A	T	6: 121,759,663 (GRCm39)	R1187S	probably damaging	Het
H6pd	T	C	4: 150,080,414 (GRCm39)	I136V	probably benign	Het
Hyal2	A	G	9: 107,447,914 (GRCm39)	N189S	probably benign	Het
Jmjd1c	C	T	10: 67,085,439 (GRCm39)	P2410S	probably damaging	Het
Larp1	A	G	11: 57,933,089 (GRCm39)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,244,927 (GRCm39)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,641,340 (GRCm39)	F508S	probably damaging	Het
Marchf4	T	C	1: 72,491,647 (GRCm39)	Y208C	probably damaging	Het
Mtarc2	T	C	1: 184,566,140 (GRCm39)	R85G	probably damaging	Het
Nr1h2	A	T	7: 44,201,476 (GRCm39)	C45*	probably null	Het
Or10ag2	T	A	2: 87,249,350 (GRCm39)	S319R	probably benign	Het
Or2n1e	A	G	17: 38,586,039 (GRCm39)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,996,629 (GRCm39)		probably null	Het
Prpf40a	A	T	2: 53,046,639 (GRCm39)	S324T	probably benign	Het
Psmb7	T	C	2: 38,530,199 (GRCm39)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,336,767 (GRCm39)	T140A	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,676,418 (GRCm39)	R122H	probably benign	Het
Relch	T	G	1: 105,659,007 (GRCm39)		probably null	Het
Rrp8	T	C	7: 105,385,596 (GRCm39)	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,371,485 (GRCm39)	S37P	probably damaging	Het
Slc12a3	A	G	8: 95,085,099 (GRCm39)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,051,814 (GRCm39)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,624,953 (GRCm39)	Q281R	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,126 (GRCm39)	V147I	probably benign	Het
Tefm	A	G	11: 80,028,814 (GRCm39)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,738,547 (GRCm39)	V145E	probably damaging	Het
Tmem231	T	A	8: 112,641,897 (GRCm39)	E219V	probably null	Het
Tmx3	T	A	18: 90,555,334 (GRCm39)		probably null	Het
Tns3	G	A	11: 8,442,987 (GRCm39)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 53,089,220 (GRCm39)	S76R	probably benign	Het
Trp63	A	G	16: 25,681,210 (GRCm39)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,696,984 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,959,064 (GRCm39)	V701A	probably damaging	Het
Usp36	A	G	11: 118,159,411 (GRCm39)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,141,176 (GRCm39)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,899,007 (GRCm39)	C450S	probably benign	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,724,299 (GRCm39)	Q423*	probably null	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
R6049:D7Ertd443e	UTSW	7	133,899,961 (GRCm39)	missense	probably benign	0.01
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'- GAACCTTTGCCTAGATTGTCCC -3'
(R):5'- TCCTTGATCATTTAAACGTGGACC -3'

Sequencing Primer
(F):5'- TAGATTGTCCCCTGTAGACAGCG -3'
(R):5'- GTGGACCAATGCTCCTCATAGAG -3'

Posted On

2018-03-15