Mutagenetix > Incidental Mutation

Incidental Mutation 'R9179:Dph6'

696873

Institutional Source

Beutler Lab

Gene Symbol

Dph6

Ensembl Gene

ENSMUSG00000057147

Gene Name

diphthamine biosynthesis 6

Synonyms

5730421E18Rik, Atpbd4, Diphthine ammonia ligase

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114346897-114485445 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114353591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 199 (C199Y)

Ref Sequence

ENSEMBL: ENSMUSP00000060730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028640] [ENSMUST00000055144] [ENSMUST00000102542]

AlphaFold

Q9CQ28

Predicted Effect

probably benign
Transcript: ENSMUST00000028640

SMART Domains

Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_4	1	189	3.7e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000055144
AA Change: C199Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060730
Gene: ENSMUSG00000057147
AA Change: C199Y

Domain	Start	End	E-Value	Type
Pfam:Diphthami_syn_2	1	242	2e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102542
AA Change: C199Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099601
Gene: ENSMUSG00000057147
AA Change: C199Y

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_4	1	242	1.1e-49	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	A	6: 124,333,882 (GRCm39)	M33L	probably benign	Het
2310003L06Rik	A	G	5: 88,119,890 (GRCm39)	T216A	probably benign	Het
9330161L09Rik	A	C	12: 103,373,837 (GRCm39)	C12G	unknown	Het
Ahdc1	T	A	4: 132,788,929 (GRCm39)	F57I	possibly damaging	Het
Amotl1	C	A	9: 14,461,787 (GRCm39)	A809S	possibly damaging	Het
Ankfn1	C	T	11: 89,414,011 (GRCm39)	M121I	probably benign	Het
Aspm	A	G	1: 139,404,453 (GRCm39)	D1261G	probably damaging	Het
Axl	T	C	7: 25,469,658 (GRCm39)	T502A	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Ccdc102a	A	G	8: 95,639,748 (GRCm39)	V182A	possibly damaging	Het
Cdh23	C	T	10: 60,153,664 (GRCm39)	A2309T	probably benign	Het
Cfap69	A	T	5: 5,676,064 (GRCm39)	N210K	probably benign	Het
Cnot1	A	G	8: 96,500,054 (GRCm39)	S147P	probably benign	Het
Cntnap5c	T	C	17: 58,600,912 (GRCm39)	S752P	probably benign	Het
Cyp3a41a	A	T	5: 145,642,654 (GRCm39)	M235K	probably benign	Het
Cyp4f15	A	G	17: 32,919,185 (GRCm39)	D336G	possibly damaging	Het
Dagla	A	G	19: 10,228,525 (GRCm39)	I631T	possibly damaging	Het
Ermard	T	A	17: 15,273,495 (GRCm39)	L360Q	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,708 (GRCm39)	T190A	probably benign	Het
Fgfr3	G	T	5: 33,887,316 (GRCm39)	V212L	possibly damaging	Het
Flnb	C	A	14: 7,887,541 (GRCm38)	C450*	probably null	Het
Gls	T	C	1: 52,239,015 (GRCm39)	Y362C	probably damaging	Het
Gngt1	A	G	6: 3,994,246 (GRCm39)	D8G	possibly damaging	Het
Gns	T	C	10: 121,216,080 (GRCm39)	F276L		Het
Grin2d	A	G	7: 45,506,176 (GRCm39)	S572P	probably damaging	Het
Impa2	C	T	18: 67,422,473 (GRCm39)		probably benign	Het
Itgal	A	T	7: 126,905,883 (GRCm39)	D355V	probably benign	Het
Kdm6b	A	T	11: 69,297,521 (GRCm39)		probably null	Het
Klk1b1	T	A	7: 43,618,715 (GRCm39)	C31S	probably damaging	Het
Ldb3	A	T	14: 34,277,312 (GRCm39)	V354E	probably benign	Het
Mettl21c	T	A	1: 44,049,142 (GRCm39)	Y135F	probably benign	Het
Mocs1	A	G	17: 49,740,303 (GRCm39)	T77A	probably damaging	Het
Ndufs1	T	C	1: 63,209,274 (GRCm39)	N30D	probably benign	Het
Or1j11	T	C	2: 36,312,126 (GRCm39)	S239P	probably damaging	Het
Or4a71	T	A	2: 89,358,494 (GRCm39)	K87*	probably null	Het
Otog	C	A	7: 45,937,885 (GRCm39)	P1865T	possibly damaging	Het
Pabpc1l	T	C	2: 163,873,140 (GRCm39)	S137P	probably damaging	Het
Pilrb1	C	A	5: 137,855,657 (GRCm39)	W78L	probably damaging	Het
Plekha6	A	G	1: 133,214,085 (GRCm39)	Y832C	possibly damaging	Het
Ppan	C	A	9: 20,803,199 (GRCm39)	Q424K	probably benign	Het
Ppp1r12a	T	A	10: 108,087,782 (GRCm39)	N544K	probably damaging	Het
Pramel16	T	C	4: 143,676,294 (GRCm39)	E270G	probably benign	Het
Pstpip2	A	G	18: 77,961,155 (GRCm39)	D246G	possibly damaging	Het
Rasef	G	A	4: 73,662,356 (GRCm39)	T198I	probably damaging	Het
Rbm12	T	C	2: 155,938,463 (GRCm39)	H603R	probably benign	Het
Rims1	T	C	1: 22,482,490 (GRCm39)	R179G	probably damaging	Het
Scel	T	C	14: 103,811,836 (GRCm39)	L288P	possibly damaging	Het
Sel1l	A	T	12: 91,778,726 (GRCm39)	D696E	probably benign	Het
Slc4a8	A	G	15: 100,689,482 (GRCm39)	K416R	possibly damaging	Het
Tmem132b	A	T	5: 125,700,115 (GRCm39)	M218L	probably benign	Het
Tnrc6a	T	C	7: 122,791,881 (GRCm39)	S1800P	probably benign	Het
Tpcn1	A	C	5: 120,680,015 (GRCm39)	L576R	probably damaging	Het
Vmn2r34	T	G	7: 7,675,723 (GRCm39)	Q555P	possibly damaging	Het
Vwa8	C	T	14: 79,335,801 (GRCm39)	T1419I	probably benign	Het
Xrn2	T	C	2: 146,855,081 (GRCm39)	Y14H	probably benign	Het
Zfp1007	A	G	5: 109,823,708 (GRCm39)	C581R	probably damaging	Het
Zfyve28	A	T	5: 34,382,376 (GRCm39)	D241E	probably benign	Het

Other mutations in Dph6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Dph6	APN	2	114,478,290 (GRCm39)	missense	probably damaging	0.99
IGL01687:Dph6	APN	2	114,475,259 (GRCm39)	nonsense	probably null
IGL01775:Dph6	APN	2	114,348,776 (GRCm39)	splice site	probably benign
IGL02251:Dph6	APN	2	114,366,004 (GRCm39)	critical splice donor site	probably null
grower	UTSW	2	114,475,236 (GRCm39)	missense	probably damaging	1.00
R0049:Dph6	UTSW	2	114,353,525 (GRCm39)	missense	probably benign	0.09
R0049:Dph6	UTSW	2	114,353,525 (GRCm39)	missense	probably benign	0.09
R1142:Dph6	UTSW	2	114,478,260 (GRCm39)	missense	probably damaging	0.99
R1240:Dph6	UTSW	2	114,475,199 (GRCm39)	splice site	probably null
R3415:Dph6	UTSW	2	114,348,768 (GRCm39)	missense	probably benign	0.00
R5679:Dph6	UTSW	2	114,398,422 (GRCm39)	missense	probably benign	0.11
R7623:Dph6	UTSW	2	114,485,379 (GRCm39)	start gained	probably benign
R7723:Dph6	UTSW	2	114,475,236 (GRCm39)	missense	probably damaging	1.00
R8545:Dph6	UTSW	2	114,478,248 (GRCm39)	missense	probably damaging	1.00
R9205:Dph6	UTSW	2	114,399,995 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAGGACAAGTTCTATTTCTCCCAGC -3'
(R):5'- CTAAAGTCCTGGTGCTTTGGC -3'

Sequencing Primer
(F):5'- ACAAGTTCTATTTCTCCCAGCCAAGG -3'
(R):5'- TTTGGCCACTGCTCTAGGGAAAC -3'

Posted On

2022-02-07