Mutagenetix > Incidental Mutation

Incidental Mutation 'R6170:4930430A15Rik'

490358

Institutional Source

Beutler Lab

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

MMRRC Submission

044431-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111227948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 167 (Y167H)

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000099620] [ENSMUST00000216421] [ENSMUST00000217539]

AlphaFold

Q05AC5

Predicted Effect

probably benign
Transcript: ENSMUST00000028577
AA Change: Y167H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: Y167H

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099620

SMART Domains

Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	9.8e-37	PFAM
Pfam:7tm_1	41	287	5.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216421

Predicted Effect

probably benign
Transcript: ENSMUST00000217539

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (68/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,572 (GRCm38)	S90R	probably benign	Het
4930523C07Rik	C	A	1: 160,075,173 (GRCm38)	N4K	possibly damaging	Het
Adgrl2	A	G	3: 148,823,009 (GRCm38)	S1167P	probably damaging	Het
Akr1e1	T	C	13: 4,602,724 (GRCm38)	D94G	possibly damaging	Het
Anln	T	C	9: 22,368,497 (GRCm38)	N466D	probably benign	Het
Atp9b	T	A	18: 80,877,347 (GRCm38)	I231L	probably benign	Het
Bpifb3	T	A	2: 153,919,637 (GRCm38)	M2K	unknown	Het
Btbd3	T	C	2: 138,278,942 (GRCm38)	L12P	probably damaging	Het
Btnl6	T	A	17: 34,515,506 (GRCm38)	Y94F	probably damaging	Het
Cab39	T	A	1: 85,818,455 (GRCm38)	L19*	probably null	Het
Cacna2d2	A	G	9: 107,527,334 (GRCm38)	D1114G	probably damaging	Het
Cdcp3	A	T	7: 131,174,487 (GRCm38)		probably null	Het
Cdh11	A	G	8: 102,634,810 (GRCm38)	V632A	probably benign	Het
Cemip	T	G	7: 83,947,230 (GRCm38)	T1109P	possibly damaging	Het
Col7a1	C	A	9: 108,966,443 (GRCm38)	P1522Q	unknown	Het
Colgalt1	C	T	8: 71,621,870 (GRCm38)	L409F	probably damaging	Het
Crtc2	A	G	3: 90,259,600 (GRCm38)	M125V	probably benign	Het
Cyp2b19	T	G	7: 26,759,094 (GRCm38)	M78R	possibly damaging	Het
Cyp4a12a	A	C	4: 115,327,446 (GRCm38)	D308A	possibly damaging	Het
D16Ertd472e	T	C	16: 78,545,267 (GRCm38)	T242A	probably benign	Het
Ddah1	A	G	3: 145,891,506 (GRCm38)	D166G	probably benign	Het
Dmtn	T	C	14: 70,617,355 (GRCm38)	D60G	probably damaging	Het
Dsg1a	A	T	18: 20,335,986 (GRCm38)	D607V	probably damaging	Het
Ebf1	T	A	11: 44,883,885 (GRCm38)	N236K	probably damaging	Het
Emc1	A	G	4: 139,366,378 (GRCm38)	T600A	probably benign	Het
Fbxo33	T	C	12: 59,204,649 (GRCm38)	N360S	probably benign	Het
Fbxw5	A	G	2: 25,503,603 (GRCm38)	D72G	possibly damaging	Het
Fhad1	T	A	4: 141,890,952 (GRCm38)	K1388*	probably null	Het
Fzd7	A	G	1: 59,483,845 (GRCm38)	M296V	probably benign	Het
Gdpd3	T	C	7: 126,771,164 (GRCm38)	I257T	probably benign	Het
Glt28d2	T	G	3: 85,871,941 (GRCm38)	D75A	possibly damaging	Het
Gm14295	G	A	2: 176,811,144 (GRCm38)		probably benign	Het
Gm28729	A	G	9: 96,519,441 (GRCm38)	I98T	probably damaging	Het
Gm4924	C	T	10: 82,377,231 (GRCm38)	Q288*	probably null	Het
Gpr150	T	C	13: 76,056,557 (GRCm38)	M90V	probably damaging	Het
Ireb2	G	A	9: 54,887,372 (GRCm38)	V331I	probably benign	Het
Lpcat2b	A	T	5: 107,433,894 (GRCm38)	Y363F	probably benign	Het
Me2	T	C	18: 73,785,781 (GRCm38)	I410V	probably benign	Het
Naxe	T	C	3: 88,058,230 (GRCm38)	E58G	probably damaging	Het
Nlrp10	T	A	7: 108,924,464 (GRCm38)	D603V	probably benign	Het
Nlrp1b	T	A	11: 71,156,079 (GRCm38)	Y1149F	probably damaging	Het
Nrg1	A	G	8: 31,818,480 (GRCm38)	Y503H	probably damaging	Het
Nxpe4	C	T	9: 48,392,804 (GRCm38)	P64S	probably benign	Het
Pkd1l3	A	T	8: 109,623,179 (GRCm38)	T219S	unknown	Het
Plagl1	T	C	10: 13,127,231 (GRCm38)	L81P	probably damaging	Het
Poglut3	T	C	9: 53,399,742 (GRCm38)	V481A	possibly damaging	Het
Polq	A	G	16: 37,045,812 (GRCm38)	Q457R	possibly damaging	Het
Ppargc1a	C	A	5: 51,473,911 (GRCm38)	A459S	probably damaging	Het
Ppp1r13l	A	G	7: 19,370,437 (GRCm38)	D253G	probably benign	Het
Prl2c2	T	A	13: 13,002,172 (GRCm38)	N55Y	probably damaging	Het
Prlr	T	C	15: 10,328,849 (GRCm38)	F470S	probably benign	Het
Serpina12	T	C	12: 104,038,241 (GRCm38)	D44G	probably benign	Het
Sfxn1	T	G	13: 54,106,507 (GRCm38)	S291R	probably benign	Het
Sipa1l1	A	G	12: 82,341,672 (GRCm38)	D224G	probably benign	Het
Slc30a7	A	G	3: 115,990,743 (GRCm38)	F123S	probably damaging	Het
Spata31f1a	A	G	4: 42,849,345 (GRCm38)	V937A	probably benign	Het
Stox2	T	A	8: 47,192,020 (GRCm38)	M802L	probably benign	Het
Tmem150a	G	A	6: 72,356,745 (GRCm38)	R30H	probably benign	Het
Tmem210	G	A	2: 25,288,764 (GRCm38)		probably null	Het
Tor3a	T	C	1: 156,656,573 (GRCm38)	N269S	possibly damaging	Het
Trp63	A	C	16: 25,884,853 (GRCm38)	N423T	probably benign	Het
Vmn2r60	A	G	7: 42,135,621 (GRCm38)	I86V	possibly damaging	Het
Vmn2r74	T	C	7: 85,957,140 (GRCm38)	I333V	probably benign	Het
Vwa7	C	A	17: 35,021,210 (GRCm38)	H385N	possibly damaging	Het
Wdr1	T	C	5: 38,529,671 (GRCm38)		probably null	Het
Wdr31	A	G	4: 62,463,424 (GRCm38)	Y57H	probably damaging	Het
Zbtb44	T	A	9: 31,053,382 (GRCm38)	H29Q	probably damaging	Het
Zfp532	T	A	18: 65,624,438 (GRCm38)	S481T	probably damaging	Het
Zfp955b	G	T	17: 33,302,110 (GRCm38)	R184S	probably benign	Het

Other mutations in 4930430A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:4930430A15Rik	APN	2	111,220,762 (GRCm38)	missense	probably damaging	0.98
IGL01403:4930430A15Rik	APN	2	111,229,170 (GRCm38)	unclassified	probably benign
IGL01431:4930430A15Rik	APN	2	111,225,395 (GRCm38)	unclassified	probably benign
IGL01601:4930430A15Rik	APN	2	111,193,478 (GRCm38)	missense	unknown
IGL01649:4930430A15Rik	APN	2	111,214,576 (GRCm38)	splice site	probably benign
IGL02355:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02362:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02485:4930430A15Rik	APN	2	111,228,325 (GRCm38)	missense	probably damaging	0.97
IGL02620:4930430A15Rik	APN	2	111,211,625 (GRCm38)	missense	probably benign	0.00
IGL03156:4930430A15Rik	APN	2	111,200,412 (GRCm38)	missense	possibly damaging	0.90
IGL02980:4930430A15Rik	UTSW	2	111,164,473 (GRCm38)	missense	unknown
R0577:4930430A15Rik	UTSW	2	111,194,349 (GRCm38)	missense	probably benign	0.27
R0638:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R0645:4930430A15Rik	UTSW	2	111,214,583 (GRCm38)	critical splice donor site	probably null
R0671:4930430A15Rik	UTSW	2	111,204,137 (GRCm38)	missense	possibly damaging	0.93
R0829:4930430A15Rik	UTSW	2	111,198,105 (GRCm38)	missense	possibly damaging	0.92
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1486:4930430A15Rik	UTSW	2	111,200,358 (GRCm38)	missense	possibly damaging	0.84
R1509:4930430A15Rik	UTSW	2	111,218,627 (GRCm38)	missense	probably benign
R1672:4930430A15Rik	UTSW	2	111,220,774 (GRCm38)	missense	probably benign	0.00
R2073:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2074:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2075:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2899:4930430A15Rik	UTSW	2	111,220,670 (GRCm38)	splice site	probably benign
R2965:4930430A15Rik	UTSW	2	111,204,019 (GRCm38)	missense	possibly damaging	0.61
R3110:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R3112:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R4489:4930430A15Rik	UTSW	2	111,220,702 (GRCm38)	missense	probably benign	0.31
R4821:4930430A15Rik	UTSW	2	111,204,145 (GRCm38)	critical splice acceptor site	probably null
R4925:4930430A15Rik	UTSW	2	111,218,616 (GRCm38)	missense	probably benign	0.41
R5045:4930430A15Rik	UTSW	2	111,193,459 (GRCm38)	missense	unknown
R5057:4930430A15Rik	UTSW	2	111,225,421 (GRCm38)	missense	probably benign	0.12
R5128:4930430A15Rik	UTSW	2	111,164,329 (GRCm38)	nonsense	probably null
R5250:4930430A15Rik	UTSW	2	111,228,077 (GRCm38)	missense	possibly damaging	0.87
R5333:4930430A15Rik	UTSW	2	111,194,337 (GRCm38)	missense	possibly damaging	0.92
R5376:4930430A15Rik	UTSW	2	111,215,599 (GRCm38)	missense	probably benign	0.44
R5677:4930430A15Rik	UTSW	2	111,211,565 (GRCm38)	missense	probably benign
R5722:4930430A15Rik	UTSW	2	111,204,123 (GRCm38)	missense	probably benign
R5735:4930430A15Rik	UTSW	2	111,225,492 (GRCm38)	nonsense	probably null
R6366:4930430A15Rik	UTSW	2	111,169,592 (GRCm38)	critical splice donor site	probably null
R6496:4930430A15Rik	UTSW	2	111,164,472 (GRCm38)	missense	unknown
R6654:4930430A15Rik	UTSW	2	111,171,884 (GRCm38)	missense	unknown
R6983:4930430A15Rik	UTSW	2	111,228,250 (GRCm38)	critical splice donor site	probably null
R7371:4930430A15Rik	UTSW	2	111,193,481 (GRCm38)	missense	unknown
R7958:4930430A15Rik	UTSW	2	111,170,325 (GRCm38)	missense	unknown
R8421:4930430A15Rik	UTSW	2	111,218,610 (GRCm38)	nonsense	probably null
R8495:4930430A15Rik	UTSW	2	111,229,410 (GRCm38)	start codon destroyed	probably null	0.33
R8534:4930430A15Rik	UTSW	2	111,228,035 (GRCm38)	missense	possibly damaging	0.92
R8671:4930430A15Rik	UTSW	2	111,229,532 (GRCm38)	unclassified	probably benign
R8679:4930430A15Rik	UTSW	2	111,229,222 (GRCm38)	missense	possibly damaging	0.73
R8743:4930430A15Rik	UTSW	2	111,169,672 (GRCm38)	missense	unknown
R8983:4930430A15Rik	UTSW	2	111,200,356 (GRCm38)	missense	probably benign	0.00
R9213:4930430A15Rik	UTSW	2	111,190,354 (GRCm38)	missense	unknown
R9457:4930430A15Rik	UTSW	2	111,170,286 (GRCm38)	missense	unknown
R9723:4930430A15Rik	UTSW	2	111,228,355 (GRCm38)	missense	probably damaging	0.97
R9745:4930430A15Rik	UTSW	2	111,169,663 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGTTACCTCACACAATTTGGAAAC -3'
(R):5'- AACAAGCCATCTGATTTTCGG -3'

Sequencing Primer
(F):5'- GCTCTGATGGCTCTTTTAAAAATCC -3'
(R):5'- GGTATGCTCCTAGGCTGTTCAAAAC -3'

Posted On

2017-10-10