Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00505:Dnai4'

332518

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnai4

Ensembl Gene

ENSMUSG00000035126

Gene Name

dynein axonemal intermediate chain 4

Synonyms

Wdr78

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL00505

Quality Score

Status

Chromosome

Chromosomal Location

102895262-102971521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102960439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 70 (S70R)

Ref Sequence

ENSEMBL: ENSMUSP00000112018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]

AlphaFold

E9PYY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036451
AA Change: S70R

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: S70R

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036557

SMART Domains

Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126

Domain	Start	End	E-Value	Type
low complexity region	59	67	N/A	INTRINSIC
low complexity region	76	100	N/A	INTRINSIC
WD40	133	172	9.24e-4	SMART
WD40	182	229	5.7e1	SMART
low complexity region	249	261	N/A	INTRINSIC
Blast:WD40	262	296	2e-12	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106868
AA Change: S70R

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: S70R

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	8.61e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART
low complexity region	601	613	N/A	INTRINSIC
Blast:WD40	614	648	3e-12	BLAST
WD40	652	692	2.38e-6	SMART
WD40	695	734	1.48e-2	SMART
WD40	739	779	6.14e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116316
AA Change: S70R

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: S70R

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119011

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,968,459 (GRCm39)		probably null	Het
Akap6	A	G	12: 52,933,885 (GRCm39)	H459R	possibly damaging	Het
Anxa5	A	G	3: 36,511,646 (GRCm39)	S144P	possibly damaging	Het
Cacna1h	T	G	17: 25,600,482 (GRCm39)	T1620P	probably damaging	Het
Cdc27	T	G	11: 104,412,258 (GRCm39)	T444P	probably benign	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Cntnap5b	A	G	1: 100,306,886 (GRCm39)	R868G	possibly damaging	Het
Cyp2j5	A	T	4: 96,519,012 (GRCm39)	N421K	probably damaging	Het
Dhcr7	T	C	7: 143,400,805 (GRCm39)	Y323H	probably damaging	Het
Gabrq	T	C	X: 71,881,971 (GRCm39)	S601P	probably damaging	Het
Gm3404	T	A	5: 146,465,095 (GRCm39)	D278E	probably damaging	Het
Gpr61	A	G	3: 108,058,514 (GRCm39)	M49T	probably damaging	Het
Map3k20	T	C	2: 72,219,827 (GRCm39)	F253S	probably damaging	Het
Ndst3	G	A	3: 123,421,599 (GRCm39)		probably benign	Het
Rcor3	C	T	1: 191,812,271 (GRCm39)		probably benign	Het
Slc15a2	C	A	16: 36,574,137 (GRCm39)	C572F	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spaca1	A	G	4: 34,029,077 (GRCm39)	I132T	probably damaging	Het
Spag6	C	A	2: 18,738,995 (GRCm39)	N308K	probably benign	Het
Stac	C	T	9: 111,464,107 (GRCm39)	R53Q	probably damaging	Het
Tekt3	A	G	11: 62,961,064 (GRCm39)	S78G	probably benign	Het
Vdac3	C	T	8: 23,070,393 (GRCm39)	G172S	possibly damaging	Het
Wdr87-ps	A	C	7: 29,233,608 (GRCm39)		noncoding transcript	Het

Other mutations in Dnai4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Dnai4	APN	4	102,929,884 (GRCm39)	missense	possibly damaging	0.94
IGL01509:Dnai4	APN	4	102,929,884 (GRCm39)	missense	possibly damaging	0.94
IGL01511:Dnai4	APN	4	102,905,558 (GRCm39)	missense	possibly damaging	0.81
IGL01693:Dnai4	APN	4	102,944,527 (GRCm39)	splice site	probably null
IGL01731:Dnai4	APN	4	102,919,632 (GRCm39)	missense	probably benign	0.01
IGL02033:Dnai4	APN	4	102,923,490 (GRCm39)	missense	possibly damaging	0.58
IGL02100:Dnai4	APN	4	102,907,346 (GRCm39)	missense	probably damaging	1.00
IGL02218:Dnai4	APN	4	102,953,971 (GRCm39)	missense	probably damaging	1.00
IGL02226:Dnai4	APN	4	102,947,595 (GRCm39)	missense	probably benign	0.00
IGL02476:Dnai4	APN	4	102,944,545 (GRCm39)	missense	possibly damaging	0.46
IGL02929:Dnai4	APN	4	102,917,188 (GRCm39)	nonsense	probably null
R0070:Dnai4	UTSW	4	102,917,131 (GRCm39)	missense	probably damaging	1.00
R0377:Dnai4	UTSW	4	102,905,456 (GRCm39)	missense	probably damaging	1.00
R0433:Dnai4	UTSW	4	102,960,450 (GRCm39)	missense	probably benign	0.41
R0518:Dnai4	UTSW	4	102,921,727 (GRCm39)	nonsense	probably null
R0538:Dnai4	UTSW	4	102,953,815 (GRCm39)	missense	possibly damaging	0.65
R0624:Dnai4	UTSW	4	102,930,054 (GRCm39)	splice site	probably benign
R0894:Dnai4	UTSW	4	102,906,583 (GRCm39)	intron	probably benign
R1463:Dnai4	UTSW	4	102,944,615 (GRCm39)	missense	possibly damaging	0.95
R1818:Dnai4	UTSW	4	102,929,854 (GRCm39)	missense	possibly damaging	0.67
R2073:Dnai4	UTSW	4	102,907,390 (GRCm39)	missense	probably damaging	1.00
R2075:Dnai4	UTSW	4	102,907,390 (GRCm39)	missense	probably damaging	1.00
R2436:Dnai4	UTSW	4	102,923,549 (GRCm39)	missense	probably benign	0.01
R2851:Dnai4	UTSW	4	102,953,858 (GRCm39)	missense	probably benign	0.12
R2852:Dnai4	UTSW	4	102,953,858 (GRCm39)	missense	probably benign	0.12
R2853:Dnai4	UTSW	4	102,907,355 (GRCm39)	missense	possibly damaging	0.90
R4491:Dnai4	UTSW	4	102,923,596 (GRCm39)	missense	probably benign	0.04
R4792:Dnai4	UTSW	4	102,929,881 (GRCm39)	missense	possibly damaging	0.94
R5223:Dnai4	UTSW	4	102,906,600 (GRCm39)	missense	possibly damaging	0.87
R5290:Dnai4	UTSW	4	102,906,730 (GRCm39)	missense	probably benign	0.00
R5465:Dnai4	UTSW	4	102,906,758 (GRCm39)	missense	probably damaging	1.00
R5975:Dnai4	UTSW	4	102,906,786 (GRCm39)	missense	probably benign	0.03
R6239:Dnai4	UTSW	4	102,923,640 (GRCm39)	missense	probably benign
R6304:Dnai4	UTSW	4	102,944,553 (GRCm39)	missense	probably benign	0.35
R6456:Dnai4	UTSW	4	102,906,746 (GRCm39)	missense	probably benign	0.00
R6467:Dnai4	UTSW	4	102,906,758 (GRCm39)	missense	probably damaging	1.00
R6813:Dnai4	UTSW	4	102,905,523 (GRCm39)	missense	probably benign	0.26
R7161:Dnai4	UTSW	4	102,953,813 (GRCm39)	missense	probably benign	0.28
R7198:Dnai4	UTSW	4	102,919,610 (GRCm39)	missense	probably damaging	0.98
R7208:Dnai4	UTSW	4	102,923,549 (GRCm39)	missense	probably benign	0.00
R7320:Dnai4	UTSW	4	102,907,384 (GRCm39)	missense	possibly damaging	0.68
R7742:Dnai4	UTSW	4	102,947,630 (GRCm39)	missense	probably benign
R7939:Dnai4	UTSW	4	102,953,798 (GRCm39)	nonsense	probably null
R8120:Dnai4	UTSW	4	102,923,531 (GRCm39)	missense	probably damaging	1.00
R8353:Dnai4	UTSW	4	102,917,113 (GRCm39)	missense	possibly damaging	0.63
R8453:Dnai4	UTSW	4	102,917,113 (GRCm39)	missense	possibly damaging	0.63
R8813:Dnai4	UTSW	4	102,947,697 (GRCm39)	missense	possibly damaging	0.53
R8870:Dnai4	UTSW	4	102,944,529 (GRCm39)	critical splice donor site	probably null
R8909:Dnai4	UTSW	4	102,944,607 (GRCm39)	missense	possibly damaging	0.91
R8957:Dnai4	UTSW	4	102,953,950 (GRCm39)	missense	probably damaging	1.00
R9035:Dnai4	UTSW	4	102,905,499 (GRCm39)	nonsense	probably null
R9060:Dnai4	UTSW	4	102,947,750 (GRCm39)	missense	probably benign	0.06
R9132:Dnai4	UTSW	4	102,916,930 (GRCm39)	missense	probably damaging	1.00
R9141:Dnai4	UTSW	4	102,906,743 (GRCm39)	missense	probably damaging	0.98
R9188:Dnai4	UTSW	4	102,939,332 (GRCm39)	missense
R9426:Dnai4	UTSW	4	102,906,743 (GRCm39)	missense	probably damaging	0.98
Z1176:Dnai4	UTSW	4	102,929,968 (GRCm39)	missense	probably benign	0.08

Posted On

2015-08-05