Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:4932414N04Rik'

577959

Institutional Source

Beutler Lab

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

MMRRC Submission

045528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68487135-68578876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68518648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 159 (T159K)

Ref Sequence

ENSEMBL: ENSMUSP00000121558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055930] [ENSMUST00000125621] [ENSMUST00000128259]

AlphaFold

Q8CEQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000055930

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
coiled coil region	154	241	N/A	INTRINSIC
Pfam:DUF3496	265	361	8.5e-12	PFAM
internal_repeat_1	456	597	1.76e-26	PROSPERO
internal_repeat_1	601	737	1.76e-26	PROSPERO

Predicted Effect

unknown
Transcript: ENSMUST00000125621
AA Change: T159K

Predicted Effect

probably benign
Transcript: ENSMUST00000128259

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
internal_repeat_1	5	39	6.02e-5	PROSPERO
internal_repeat_1	209	242	6.02e-5	PROSPERO
low complexity region	286	297	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,655,601 (GRCm39)	E57G	possibly damaging	Het
Adamts10	T	A	17: 33,763,979 (GRCm39)	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,981,791 (GRCm39)	S26L	unknown	Het
Alpk3	A	C	7: 80,728,310 (GRCm39)	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919 (GRCm39)	T529A	unknown	Het
Arl4d	A	G	11: 101,557,486 (GRCm39)	H4R	probably benign	Het
Ash1l	A	G	3: 88,891,172 (GRCm39)	H1017R	probably benign	Het
Bbs12	T	C	3: 37,375,102 (GRCm39)	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,882,467 (GRCm39)	R616L	possibly damaging	Het
Bean1	G	A	8: 104,937,658 (GRCm39)	G79D	probably damaging	Het
Bicra	C	G	7: 15,706,059 (GRCm39)	G1461R	probably benign	Het
Bptf	T	C	11: 106,935,466 (GRCm39)	T124A	probably benign	Het
Btnl4	A	T	17: 34,691,348 (GRCm39)	V312E	probably benign	Het
Ccdc7a	A	G	8: 129,670,997 (GRCm39)	M503T	unknown	Het
Celf5	T	C	10: 81,318,357 (GRCm39)	E28G	probably damaging	Het
Cilp2	G	A	8: 70,336,040 (GRCm39)	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,119,411 (GRCm39)	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544 (GRCm39)	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,759,852 (GRCm39)	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,128,852 (GRCm39)	L857F	probably null	Het
Dnah6	T	A	6: 73,189,475 (GRCm39)	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,557,923 (GRCm39)	M2164L	probably benign	Het
Dspp	T	A	5: 104,323,476 (GRCm39)	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,541,727 (GRCm39)	V443M	possibly damaging	Het
Erc2	A	G	14: 28,024,948 (GRCm39)	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,801,583 (GRCm39)	H513N	probably benign	Het
Fam171a2	T	C	11: 102,330,543 (GRCm39)	T280A	possibly damaging	Het
Fkbp5	A	C	17: 28,634,999 (GRCm39)	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Fzd2	T	C	11: 102,495,955 (GRCm39)	F133S	probably damaging	Het
Galm	A	G	17: 80,445,550 (GRCm39)	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,303,920 (GRCm39)	I5N	possibly damaging	Het
Gga2	T	C	7: 121,601,369 (GRCm39)	R245G	probably benign	Het
Gm10053	A	G	19: 24,853,264 (GRCm39)	T50A	probably benign	Het
Gm1110	T	C	9: 26,831,945 (GRCm39)	T69A	probably benign	Het
Heatr5a	T	C	12: 52,008,326 (GRCm39)	S6G	probably benign	Het
Hmcn1	A	G	1: 150,439,355 (GRCm39)	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,154,199 (GRCm39)	V123A	probably damaging	Het
Itgal	C	A	7: 126,926,936 (GRCm39)	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,332,498 (GRCm39)	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,870,929 (GRCm39)		probably null	Het
Kat6a	A	G	8: 23,425,788 (GRCm39)	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,696,639 (GRCm39)	P452T	probably benign	Het
Krit1	T	C	5: 3,862,474 (GRCm39)	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,216,800 (GRCm39)	Y56N	unknown	Het
Lig1	A	T	7: 13,022,647 (GRCm39)	D158V	probably damaging	Het
Lmo1	A	T	7: 108,739,873 (GRCm39)	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,939,238 (GRCm39)	L114H	probably damaging	Het
Ltn1	T	C	16: 87,194,700 (GRCm39)	I1400V	probably benign	Het
Mark3	T	C	12: 111,570,961 (GRCm39)	I87T	probably damaging	Het
Mfrp	G	T	9: 44,016,480 (GRCm39)	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,318,872 (GRCm39)	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,444,125 (GRCm39)	M1K	probably null	Het
Nme7	T	A	1: 164,208,217 (GRCm39)	L295*	probably null	Het
Noct	G	T	3: 51,157,151 (GRCm39)	C163F	probably damaging	Het
Or11h4b	T	A	14: 50,918,281 (GRCm39)	Q270L	possibly damaging	Het
Or13a26	A	T	7: 140,284,547 (GRCm39)	I128F	probably damaging	Het
Or4b1	T	A	2: 89,979,763 (GRCm39)	I196F	possibly damaging	Het
Or5ak22	T	A	2: 85,229,955 (GRCm39)	K307N	probably damaging	Het
Or6c203	T	A	10: 129,010,324 (GRCm39)	T189S	probably damaging	Het
Or8g2	A	G	9: 39,821,200 (GRCm39)	I34V	probably benign	Het
Patz1	C	T	11: 3,248,297 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,097,185 (GRCm39)	L780P	probably benign	Het
Pira1	T	G	7: 3,738,509 (GRCm39)	E622D	probably benign	Het
Pla2g4a	T	C	1: 149,748,441 (GRCm39)	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,729,532 (GRCm39)	K395R	probably benign	Het
Poc5	G	T	13: 96,537,340 (GRCm39)	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,251,873 (GRCm39)	S434P	possibly damaging	Het
Prss42	A	G	9: 110,627,897 (GRCm39)	N110S	probably benign	Het
Ralgapb	T	A	2: 158,274,822 (GRCm39)	I241N	possibly damaging	Het
Rbak	A	C	5: 143,159,528 (GRCm39)	Y508*	probably null	Het
S1pr2	G	T	9: 20,878,845 (GRCm39)	R328S	possibly damaging	Het
Sap130	T	C	18: 31,783,565 (GRCm39)	M214T	probably benign	Het
Slc46a1	T	A	11: 78,357,337 (GRCm39)	V130E	probably damaging	Het
Smc4	A	T	3: 68,925,457 (GRCm39)	H343L	probably benign	Het
Tarbp1	C	A	8: 127,184,416 (GRCm39)	R500L	probably benign	Het
Tasor2	A	G	13: 3,635,332 (GRCm39)	S492P	probably benign	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,993,819 (GRCm39)	S235P	probably benign	Het
Trbc2	G	T	6: 41,523,763 (GRCm39)	R33M		Het
Trim3	C	T	7: 105,268,765 (GRCm39)	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,433,350 (GRCm39)	V2128A	probably benign	Het
Ttn	C	T	2: 76,556,162 (GRCm39)	R30281H	probably damaging	Het
Ttn	T	A	2: 76,774,483 (GRCm39)	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,615,180 (GRCm39)	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,822,288 (GRCm39)	D322V	probably benign	Het
Wdr38	C	T	2: 38,888,352 (GRCm39)		probably benign	Het
Xrn1	T	A	9: 95,930,411 (GRCm39)	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,326,562 (GRCm39)	T201I	possibly damaging	Het

Other mutations in 4932414N04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:4932414N04Rik	APN	2	68,563,219 (GRCm39)	missense	probably benign	0.02
IGL01384:4932414N04Rik	APN	2	68,575,749 (GRCm39)	missense	possibly damaging	0.53
IGL02170:4932414N04Rik	APN	2	68,561,467 (GRCm39)	missense	probably benign	0.02
IGL02650:4932414N04Rik	APN	2	68,571,881 (GRCm39)	missense	probably benign	0.00
IGL02707:4932414N04Rik	APN	2	68,561,474 (GRCm39)	missense	possibly damaging	0.71
IGL02737:4932414N04Rik	APN	2	68,566,904 (GRCm39)	missense	possibly damaging	0.53
IGL03351:4932414N04Rik	APN	2	68,561,427 (GRCm39)	missense	probably benign
R0328:4932414N04Rik	UTSW	2	68,574,624 (GRCm39)	missense	possibly damaging	0.53
R0362:4932414N04Rik	UTSW	2	68,563,261 (GRCm39)	missense	probably benign	0.00
R0638:4932414N04Rik	UTSW	2	68,547,572 (GRCm39)	missense	probably benign	0.18
R1201:4932414N04Rik	UTSW	2	68,546,626 (GRCm39)	missense	possibly damaging	0.53
R1381:4932414N04Rik	UTSW	2	68,561,430 (GRCm39)	missense	probably benign	0.18
R1456:4932414N04Rik	UTSW	2	68,546,558 (GRCm39)	missense	possibly damaging	0.86
R2001:4932414N04Rik	UTSW	2	68,571,800 (GRCm39)	missense	probably benign
R2051:4932414N04Rik	UTSW	2	68,541,392 (GRCm39)	missense	possibly damaging	0.72
R2228:4932414N04Rik	UTSW	2	68,559,935 (GRCm39)	missense	probably benign	0.00
R2292:4932414N04Rik	UTSW	2	68,562,483 (GRCm39)	missense	probably benign	0.00
R2357:4932414N04Rik	UTSW	2	68,569,844 (GRCm39)	missense	possibly damaging	0.86
R2484:4932414N04Rik	UTSW	2	68,541,819 (GRCm39)	missense	possibly damaging	0.85
R3035:4932414N04Rik	UTSW	2	68,575,762 (GRCm39)	missense	probably benign	0.00
R3916:4932414N04Rik	UTSW	2	68,562,329 (GRCm39)	missense	possibly damaging	0.71
R3950:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R3951:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R3952:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R4091:4932414N04Rik	UTSW	2	68,575,722 (GRCm39)	missense	possibly damaging	0.73
R4118:4932414N04Rik	UTSW	2	68,566,857 (GRCm39)	missense	probably benign
R4153:4932414N04Rik	UTSW	2	68,498,941 (GRCm39)	intron	probably benign
R4210:4932414N04Rik	UTSW	2	68,490,222 (GRCm39)	start gained	probably benign
R4614:4932414N04Rik	UTSW	2	68,575,804 (GRCm39)	missense	probably benign	0.01
R4818:4932414N04Rik	UTSW	2	68,571,810 (GRCm39)	missense	probably benign
R5202:4932414N04Rik	UTSW	2	68,562,308 (GRCm39)	missense	probably benign
R5466:4932414N04Rik	UTSW	2	68,541,733 (GRCm39)	missense	probably benign	0.11
R5585:4932414N04Rik	UTSW	2	68,571,770 (GRCm39)	missense	probably benign	0.00
R5602:4932414N04Rik	UTSW	2	68,578,712 (GRCm39)	makesense	probably null
R5846:4932414N04Rik	UTSW	2	68,562,377 (GRCm39)	missense	unknown
R5902:4932414N04Rik	UTSW	2	68,539,281 (GRCm39)	start codon destroyed	probably null
R6002:4932414N04Rik	UTSW	2	68,492,768 (GRCm39)	splice site	probably null
R6029:4932414N04Rik	UTSW	2	68,524,370 (GRCm39)	splice site	probably null
R6093:4932414N04Rik	UTSW	2	68,490,214 (GRCm39)	splice site	probably benign
R6168:4932414N04Rik	UTSW	2	68,571,827 (GRCm39)	missense	possibly damaging	0.86
R6300:4932414N04Rik	UTSW	2	68,561,453 (GRCm39)	missense	possibly damaging	0.96
R6322:4932414N04Rik	UTSW	2	68,559,843 (GRCm39)	missense	probably benign	0.00
R6533:4932414N04Rik	UTSW	2	68,546,662 (GRCm39)	nonsense	probably null
R6547:4932414N04Rik	UTSW	2	68,490,251 (GRCm39)	utr 5 prime	probably benign
R7309:4932414N04Rik	UTSW	2	68,546,530 (GRCm39)	missense	probably benign	0.29
R7400:4932414N04Rik	UTSW	2	68,496,547 (GRCm39)	missense	unknown
R7481:4932414N04Rik	UTSW	2	68,494,575 (GRCm39)	missense	unknown
R7498:4932414N04Rik	UTSW	2	68,498,012 (GRCm39)	missense	unknown
R7523:4932414N04Rik	UTSW	2	68,569,673 (GRCm39)	missense	probably benign	0.01
R7523:4932414N04Rik	UTSW	2	68,492,824 (GRCm39)	missense	unknown
R7583:4932414N04Rik	UTSW	2	68,569,670 (GRCm39)	missense	probably damaging	0.98
R7701:4932414N04Rik	UTSW	2	68,561,548 (GRCm39)	missense	possibly damaging	0.60
R7746:4932414N04Rik	UTSW	2	68,559,339 (GRCm39)	missense	probably benign	0.33
R7778:4932414N04Rik	UTSW	2	68,569,855 (GRCm39)	missense	possibly damaging	0.73
R7985:4932414N04Rik	UTSW	2	68,494,693 (GRCm39)	missense	unknown
R8525:4932414N04Rik	UTSW	2	68,559,378 (GRCm39)	missense	possibly damaging	0.83
R8765:4932414N04Rik	UTSW	2	68,566,956 (GRCm39)	missense	possibly damaging	0.85
R8906:4932414N04Rik	UTSW	2	68,562,498 (GRCm39)	missense	possibly damaging	0.85
R9406:4932414N04Rik	UTSW	2	68,498,019 (GRCm39)	missense	unknown
R9627:4932414N04Rik	UTSW	2	68,487,834 (GRCm39)	unclassified	probably benign
X0025:4932414N04Rik	UTSW	2	68,559,360 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AATTCTCTGAACCTGGTACACTCC -3'
(R):5'- CTCCAAATGGAAAATAGCCCTTATC -3'

Sequencing Primer
(F):5'- ACTCCTGTGTCTATCCCAAGG -3'
(R):5'- TGGAAAATAGCCCTTATCAATACAAC -3'

Posted On

2019-10-07