Mutagenetix > Incidental Mutation

Incidental Mutation 'V7580:D630003M21Rik'

69401

Institutional Source

Beutler Lab

Gene Symbol

D630003M21Rik

Ensembl Gene

ENSMUSG00000037813

Gene Name

RIKEN cDNA D630003M21 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

V7580 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158182533-158229222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158201011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 870 (T870A)

Ref Sequence

ENSEMBL: ENSMUSP00000130623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046944] [ENSMUST00000103121] [ENSMUST00000169335]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046944
AA Change: T870A

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: T870A

Domain	Start	End	E-Value	Type
low complexity region	321	333	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	517	535	N/A	INTRINSIC
Blast:SEC14	567	702	1e-6	BLAST
SCOP:d1aua_2	567	711	5e-9	SMART
Blast:SPEC	712	824	3e-16	BLAST
low complexity region	826	839	N/A	INTRINSIC
low complexity region	903	911	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	1160	1174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103121
AA Change: T870A

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: T870A

Domain	Start	End	E-Value	Type
low complexity region	321	333	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	517	535	N/A	INTRINSIC
Blast:SEC14	567	702	7e-7	BLAST
SCOP:d1aua_2	567	711	4e-9	SMART
Blast:SPEC	712	824	3e-16	BLAST
low complexity region	826	839	N/A	INTRINSIC
low complexity region	903	911	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	1095	1106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169335
AA Change: T870A

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: T870A

Domain	Start	End	E-Value	Type
low complexity region	321	333	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	517	535	N/A	INTRINSIC
Blast:SEC14	567	702	7e-7	BLAST
SCOP:d1aua_2	567	711	4e-9	SMART
Blast:SPEC	712	824	3e-16	BLAST
low complexity region	826	839	N/A	INTRINSIC
low complexity region	903	911	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	1095	1106	N/A	INTRINSIC

Meta Mutation Damage Score

0.0687

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,886,179 (GRCm38)	M950L	probably benign	Het
Atp6v1h	A	G	1: 5,124,443 (GRCm38)	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm38)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528 (GRCm38)		probably null	Het
Cfi	T	A	3: 129,854,992 (GRCm38)	I175K	possibly damaging	Het
Dnah12	T	A	14: 26,773,093 (GRCm38)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482 (GRCm38)	Y183N	probably damaging	Het
Erv3	T	C	2: 131,855,926 (GRCm38)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm38)	T249A	probably benign	Het
Gm10770	T	A	2: 150,179,484 (GRCm38)	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567 (GRCm38)	Q606*	probably null	Het
Izumo4	A	T	10: 80,703,891 (GRCm38)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091 (GRCm38)	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572 (GRCm38)	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727 (GRCm38)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518 (GRCm38)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512 (GRCm38)	N3176T	possibly damaging	Het
Med20	G	A	17: 47,618,832 (GRCm38)	V65M	probably damaging	Het
Mylk	G	T	16: 34,995,204 (GRCm38)		probably null	Het
Numbl	T	C	7: 27,279,602 (GRCm38)	S379P	probably benign	Het
Olfr1406	G	T	1: 173,183,964 (GRCm38)	L157I	probably benign	Het
Olfr1440	G	A	19: 12,394,550 (GRCm38)	V96I	probably benign	Het
Otop3	T	A	11: 115,344,838 (GRCm38)	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834 (GRCm38)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150 (GRCm38)	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422 (GRCm38)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319 (GRCm38)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618 (GRCm38)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,220,237 (GRCm38)	Y257H	probably damaging	Het
Recql4	T	C	15: 76,706,169 (GRCm38)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933 (GRCm38)	Q501R	probably damaging	Het
Slc30a4	T	A	2: 122,689,538 (GRCm38)	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311 (GRCm38)	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648 (GRCm38)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632 (GRCm38)	R2292C	probably damaging	Het
Tnrc6c	G	A	11: 117,723,326 (GRCm38)	R770H	probably damaging	Het
Trps1	T	C	15: 50,831,577 (GRCm38)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060 (GRCm38)	V86A	probably benign	Het
Zfp292	C	T	4: 34,806,783 (GRCm38)	C2087Y	possibly damaging	Het
Zmynd8	G	A	2: 165,812,394 (GRCm38)	R724*	probably null	Het

Other mutations in D630003M21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:D630003M21Rik	APN	2	158,213,412 (GRCm38)	missense	possibly damaging	0.92
IGL01447:D630003M21Rik	APN	2	158,217,356 (GRCm38)	missense	probably benign
IGL01501:D630003M21Rik	APN	2	158,201,067 (GRCm38)	missense	probably benign	0.03
IGL01874:D630003M21Rik	APN	2	158,204,724 (GRCm38)	missense	probably damaging	1.00
IGL02116:D630003M21Rik	APN	2	158,203,210 (GRCm38)	missense	possibly damaging	0.76
IGL02212:D630003M21Rik	APN	2	158,210,171 (GRCm38)	missense	probably benign	0.02
IGL02477:D630003M21Rik	APN	2	158,217,488 (GRCm38)	missense	probably benign	0.44
IGL02644:D630003M21Rik	APN	2	158,216,810 (GRCm38)	missense	possibly damaging	0.87
IGL02861:D630003M21Rik	APN	2	158,200,998 (GRCm38)	missense	probably benign	0.03
IGL02896:D630003M21Rik	APN	2	158,217,285 (GRCm38)	missense	probably benign	0.00
IGL03089:D630003M21Rik	APN	2	158,216,744 (GRCm38)	missense	probably benign
IGL03148:D630003M21Rik	APN	2	158,217,224 (GRCm38)	missense	probably damaging	1.00
ANU05:D630003M21Rik	UTSW	2	158,196,388 (GRCm38)	missense	probably benign	0.00
ANU18:D630003M21Rik	UTSW	2	158,217,648 (GRCm38)	missense	probably benign
F5770:D630003M21Rik	UTSW	2	158,201,011 (GRCm38)	missense	probably benign	0.38
R0113:D630003M21Rik	UTSW	2	158,196,575 (GRCm38)	missense	possibly damaging	0.92
R0147:D630003M21Rik	UTSW	2	158,203,067 (GRCm38)	splice site	probably benign
R0513:D630003M21Rik	UTSW	2	158,200,308 (GRCm38)	missense	probably benign	0.44
R0637:D630003M21Rik	UTSW	2	158,195,407 (GRCm38)	intron	probably benign
R1594:D630003M21Rik	UTSW	2	158,211,630 (GRCm38)	missense	probably damaging	1.00
R1774:D630003M21Rik	UTSW	2	158,220,470 (GRCm38)	missense	probably damaging	1.00
R1823:D630003M21Rik	UTSW	2	158,217,557 (GRCm38)	missense	probably damaging	1.00
R1864:D630003M21Rik	UTSW	2	158,203,185 (GRCm38)	missense	probably damaging	1.00
R1983:D630003M21Rik	UTSW	2	158,208,421 (GRCm38)	missense	probably benign	0.34
R2042:D630003M21Rik	UTSW	2	158,215,849 (GRCm38)	missense	probably damaging	1.00
R2259:D630003M21Rik	UTSW	2	158,204,711 (GRCm38)	missense	probably damaging	1.00
R2350:D630003M21Rik	UTSW	2	158,201,011 (GRCm38)	missense	probably damaging	0.96
R3157:D630003M21Rik	UTSW	2	158,195,472 (GRCm38)	intron	probably benign
R3937:D630003M21Rik	UTSW	2	158,200,360 (GRCm38)	missense	probably damaging	1.00
R4124:D630003M21Rik	UTSW	2	158,196,593 (GRCm38)	missense	probably damaging	0.97
R4437:D630003M21Rik	UTSW	2	158,213,462 (GRCm38)	missense	probably damaging	1.00
R4473:D630003M21Rik	UTSW	2	158,213,462 (GRCm38)	missense	probably damaging	1.00
R4513:D630003M21Rik	UTSW	2	158,204,802 (GRCm38)	missense	probably benign	0.01
R4514:D630003M21Rik	UTSW	2	158,204,802 (GRCm38)	missense	probably benign	0.01
R4729:D630003M21Rik	UTSW	2	158,216,703 (GRCm38)	missense	probably damaging	1.00
R4794:D630003M21Rik	UTSW	2	158,196,139 (GRCm38)	missense	probably benign
R4947:D630003M21Rik	UTSW	2	158,186,196 (GRCm38)	missense	unknown
R5005:D630003M21Rik	UTSW	2	158,211,643 (GRCm38)	missense	possibly damaging	0.87
R5022:D630003M21Rik	UTSW	2	158,217,633 (GRCm38)	missense	probably damaging	0.99
R5167:D630003M21Rik	UTSW	2	158,205,745 (GRCm38)	missense	probably damaging	1.00
R5191:D630003M21Rik	UTSW	2	158,201,035 (GRCm38)	missense	probably benign	0.06
R5488:D630003M21Rik	UTSW	2	158,217,021 (GRCm38)	missense	probably benign	0.15
R5489:D630003M21Rik	UTSW	2	158,217,021 (GRCm38)	missense	probably benign	0.15
R5495:D630003M21Rik	UTSW	2	158,220,511 (GRCm38)	missense	possibly damaging	0.69
R5708:D630003M21Rik	UTSW	2	158,220,392 (GRCm38)	splice site	probably null
R5770:D630003M21Rik	UTSW	2	158,195,580 (GRCm38)	intron	probably benign
R5789:D630003M21Rik	UTSW	2	158,216,814 (GRCm38)	missense	possibly damaging	0.63
R5817:D630003M21Rik	UTSW	2	158,196,493 (GRCm38)	missense	probably damaging	1.00
R5898:D630003M21Rik	UTSW	2	158,204,657 (GRCm38)	splice site	probably null
R5969:D630003M21Rik	UTSW	2	158,217,708 (GRCm38)	missense	probably damaging	1.00
R6084:D630003M21Rik	UTSW	2	158,217,584 (GRCm38)	missense	probably damaging	0.99
R6111:D630003M21Rik	UTSW	2	158,213,448 (GRCm38)	missense	probably damaging	1.00
R6225:D630003M21Rik	UTSW	2	158,217,401 (GRCm38)	missense	probably benign	0.23
R6307:D630003M21Rik	UTSW	2	158,215,951 (GRCm38)	missense	probably benign	0.34
R6350:D630003M21Rik	UTSW	2	158,220,495 (GRCm38)	missense	probably damaging	1.00
R6548:D630003M21Rik	UTSW	2	158,205,699 (GRCm38)	critical splice donor site	probably null
R6583:D630003M21Rik	UTSW	2	158,220,516 (GRCm38)	missense	probably damaging	0.98
R6821:D630003M21Rik	UTSW	2	158,204,774 (GRCm38)	missense	probably damaging	1.00
R6963:D630003M21Rik	UTSW	2	158,200,308 (GRCm38)	missense	probably benign	0.44
R7021:D630003M21Rik	UTSW	2	158,216,750 (GRCm38)	missense	possibly damaging	0.59
R7210:D630003M21Rik	UTSW	2	158,216,012 (GRCm38)	critical splice acceptor site	probably null
R7345:D630003M21Rik	UTSW	2	158,217,209 (GRCm38)	missense	probably damaging	1.00
R7355:D630003M21Rik	UTSW	2	158,200,224 (GRCm38)	missense	probably damaging	1.00
R7514:D630003M21Rik	UTSW	2	158,217,353 (GRCm38)	missense	probably damaging	1.00
R7587:D630003M21Rik	UTSW	2	158,201,056 (GRCm38)	missense	probably damaging	1.00
R7587:D630003M21Rik	UTSW	2	158,196,388 (GRCm38)	missense	probably benign	0.00
R7713:D630003M21Rik	UTSW	2	158,216,778 (GRCm38)	nonsense	probably null
R7792:D630003M21Rik	UTSW	2	158,210,162 (GRCm38)	missense	possibly damaging	0.94
R7819:D630003M21Rik	UTSW	2	158,216,798 (GRCm38)	missense	probably damaging	0.97
R7832:D630003M21Rik	UTSW	2	158,217,668 (GRCm38)	missense	probably damaging	1.00
R8115:D630003M21Rik	UTSW	2	158,216,590 (GRCm38)	missense	probably benign	0.23
R8482:D630003M21Rik	UTSW	2	158,216,932 (GRCm38)	missense	probably benign	0.01
R8829:D630003M21Rik	UTSW	2	158,216,936 (GRCm38)	missense	probably damaging	0.98
R8928:D630003M21Rik	UTSW	2	158,217,527 (GRCm38)	missense	probably damaging	1.00
R9183:D630003M21Rik	UTSW	2	158,217,192 (GRCm38)	missense	probably benign	0.00
R9254:D630003M21Rik	UTSW	2	158,200,963 (GRCm38)	missense	probably damaging	1.00
R9661:D630003M21Rik	UTSW	2	158,205,753 (GRCm38)	missense	possibly damaging	0.72
V7581:D630003M21Rik	UTSW	2	158,201,011 (GRCm38)	missense	probably benign	0.38
V7583:D630003M21Rik	UTSW	2	158,201,011 (GRCm38)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- GCTGTGCCTGGAAGCTCCCT -3'
(R):5'- AAATAAATGGTGGGCAGCTCCTAAGG -3'

Sequencing Primer
(F):5'- GAAGCTCCCTTGCATTTTCC -3'
(R):5'- cacacatacacacatacacatcc -3'

Posted On

2013-09-04