Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:4931408C20Rik'

175388

Institutional Source

Beutler Lab

Gene Symbol

4931408C20Rik

Ensembl Gene

ENSMUSG00000073722

Gene Name

RIKEN cDNA 4931408C20 gene

Synonyms

MMRRC Submission

039607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26681814-26687460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26685869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 77 (T77A)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097801]

AlphaFold

E9PWP9

Predicted Effect

probably benign
Transcript: ENSMUST00000097801
AA Change: T77A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: T77A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:FAM75	128	474	4.6e-28	PFAM
internal_repeat_1	939	1112	4.27e-16	PROSPERO
internal_repeat_1	1204	1376	4.27e-16	PROSPERO

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	Het

Other mutations in 4931408C20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:4931408C20Rik	APN	1	26684977	missense	probably benign	0.00
IGL00575:4931408C20Rik	APN	1	26682932	missense	possibly damaging	0.51
IGL00656:4931408C20Rik	APN	1	26682901	missense	possibly damaging	0.71
IGL00671:4931408C20Rik	APN	1	26684859	missense	possibly damaging	0.50
IGL00777:4931408C20Rik	APN	1	26682092	missense	probably damaging	1.00
IGL00824:4931408C20Rik	APN	1	26683589	missense	possibly damaging	0.48
IGL01018:4931408C20Rik	APN	1	26682910	missense	probably damaging	0.99
IGL01148:4931408C20Rik	APN	1	26685172	missense	probably benign	0.22
IGL01631:4931408C20Rik	APN	1	26685414	missense	probably damaging	0.98
IGL01901:4931408C20Rik	APN	1	26682584	missense	probably benign	0.13
IGL01957:4931408C20Rik	APN	1	26685259	missense	probably damaging	0.98
IGL02031:4931408C20Rik	APN	1	26685023	missense	probably damaging	0.99
IGL02596:4931408C20Rik	APN	1	26684002	missense	probably benign	0.00
PIT4486001:4931408C20Rik	UTSW	1	26685329	missense	probably damaging	0.99
R0026:4931408C20Rik	UTSW	1	26683369	missense	probably benign	0.00
R0026:4931408C20Rik	UTSW	1	26683369	missense	probably benign	0.00
R0043:4931408C20Rik	UTSW	1	26683802	missense	possibly damaging	0.72
R0141:4931408C20Rik	UTSW	1	26683782	missense	probably benign	0.00
R0145:4931408C20Rik	UTSW	1	26687332	missense	probably benign	0.00
R0158:4931408C20Rik	UTSW	1	26683951	missense	probably damaging	0.98
R0325:4931408C20Rik	UTSW	1	26685266	missense	possibly damaging	0.91
R0627:4931408C20Rik	UTSW	1	26685889	missense	probably benign	0.00
R0733:4931408C20Rik	UTSW	1	26682932	missense	possibly damaging	0.51
R1033:4931408C20Rik	UTSW	1	26682385	missense	probably benign
R1074:4931408C20Rik	UTSW	1	26683226	missense	probably benign	0.00
R1108:4931408C20Rik	UTSW	1	26682466	missense	possibly damaging	0.85
R1139:4931408C20Rik	UTSW	1	26682665	missense	probably benign	0.04
R1326:4931408C20Rik	UTSW	1	26683930	missense	probably damaging	1.00
R1398:4931408C20Rik	UTSW	1	26685341	missense	possibly damaging	0.82
R1422:4931408C20Rik	UTSW	1	26682466	missense	possibly damaging	0.85
R1463:4931408C20Rik	UTSW	1	26682141	nonsense	probably null
R1485:4931408C20Rik	UTSW	1	26685880	missense	possibly damaging	0.92
R1603:4931408C20Rik	UTSW	1	26685569	missense	probably damaging	0.99
R1605:4931408C20Rik	UTSW	1	26684430	missense	possibly damaging	0.92
R1795:4931408C20Rik	UTSW	1	26682989	nonsense	probably null
R1945:4931408C20Rik	UTSW	1	26682314	missense	probably benign	0.04
R1967:4931408C20Rik	UTSW	1	26683373	missense	probably benign	0.02
R2055:4931408C20Rik	UTSW	1	26685732	missense	possibly damaging	0.86
R2093:4931408C20Rik	UTSW	1	26682141	nonsense	probably null
R2131:4931408C20Rik	UTSW	1	26685854	missense	probably benign	0.11
R2237:4931408C20Rik	UTSW	1	26685160	missense	possibly damaging	0.82
R2314:4931408C20Rik	UTSW	1	26684702	missense	probably benign	0.00
R2407:4931408C20Rik	UTSW	1	26682838	missense	possibly damaging	0.86
R2993:4931408C20Rik	UTSW	1	26685828	missense	possibly damaging	0.83
R4245:4931408C20Rik	UTSW	1	26682080	missense	probably benign	0.00
R4567:4931408C20Rik	UTSW	1	26683117	missense	probably benign
R4605:4931408C20Rik	UTSW	1	26683186	missense	probably benign	0.45
R4708:4931408C20Rik	UTSW	1	26684440	missense	possibly damaging	0.92
R4827:4931408C20Rik	UTSW	1	26685842	missense	possibly damaging	0.91
R4839:4931408C20Rik	UTSW	1	26685359	missense	probably benign	0.11
R4888:4931408C20Rik	UTSW	1	26683547	missense	probably benign	0.00
R5075:4931408C20Rik	UTSW	1	26683052	missense	probably damaging	0.99
R5101:4931408C20Rik	UTSW	1	26683336	missense	possibly damaging	0.92
R5231:4931408C20Rik	UTSW	1	26683951	missense	possibly damaging	0.79
R5310:4931408C20Rik	UTSW	1	26685088	missense	probably benign	0.00
R5459:4931408C20Rik	UTSW	1	26685191	missense	probably damaging	0.96
R5520:4931408C20Rik	UTSW	1	26685819	missense	probably benign	0.00
R5608:4931408C20Rik	UTSW	1	26683048	missense	probably damaging	0.97
R5960:4931408C20Rik	UTSW	1	26683144	missense	probably benign	0.34
R6128:4931408C20Rik	UTSW	1	26685425	missense	probably benign	0.38
R6188:4931408C20Rik	UTSW	1	26685703	missense	probably damaging	0.99
R6319:4931408C20Rik	UTSW	1	26685401	missense	probably benign	0.38
R6339:4931408C20Rik	UTSW	1	26682505	missense	probably benign	0.01
R6431:4931408C20Rik	UTSW	1	26684030	missense	probably benign	0.11
R6456:4931408C20Rik	UTSW	1	26685169	missense	probably damaging	0.99
R6562:4931408C20Rik	UTSW	1	26682362	missense	possibly damaging	0.91
R6645:4931408C20Rik	UTSW	1	26683117	missense	probably benign	0.06
R6647:4931408C20Rik	UTSW	1	26682578	missense	probably damaging	0.99
R6919:4931408C20Rik	UTSW	1	26682934	missense	probably benign	0.15
R7085:4931408C20Rik	UTSW	1	26683465	missense	possibly damaging	0.95
R7183:4931408C20Rik	UTSW	1	26682833	missense	probably benign	0.27
R7347:4931408C20Rik	UTSW	1	26684467	missense	probably benign	0.02
R7488:4931408C20Rik	UTSW	1	26683958	missense	possibly damaging	0.77
R7565:4931408C20Rik	UTSW	1	26685270	missense	probably benign	0.00
R7726:4931408C20Rik	UTSW	1	26684498	missense	probably benign	0.08
R8258:4931408C20Rik	UTSW	1	26682481	missense	probably benign	0.28
R8259:4931408C20Rik	UTSW	1	26682481	missense	probably benign	0.28
R8701:4931408C20Rik	UTSW	1	26685445	missense	probably benign	0.21
R8905:4931408C20Rik	UTSW	1	26682814	missense	probably damaging	0.97
R9137:4931408C20Rik	UTSW	1	26685634	missense	probably benign	0.13
R9138:4931408C20Rik	UTSW	1	26682172	missense	possibly damaging	0.90
R9170:4931408C20Rik	UTSW	1	26684404	missense	possibly damaging	0.93
R9287:4931408C20Rik	UTSW	1	26683345	missense	possibly damaging	0.51
R9331:4931408C20Rik	UTSW	1	26683709	missense	probably benign	0.00
R9535:4931408C20Rik	UTSW	1	26682151	nonsense	probably null
R9719:4931408C20Rik	UTSW	1	26683739	missense	probably benign	0.02
X0025:4931408C20Rik	UTSW	1	26682505	missense	probably benign	0.00
X0061:4931408C20Rik	UTSW	1	26682569	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCAGAGATCACAGAGGATATGCCCC -3'
(R):5'- GTGTGACATAGACAGCTCCTTCTGC -3'

Sequencing Primer
(F):5'- GGATATGCCCCATAAAAGTTGG -3'
(R):5'- CTGTTTCTCCCAATGAGTCAAAAAGG -3'

Posted On

2014-04-24