Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02033:Dnai4'

184417

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 #

IGL02033

Quality Score

Status

Chromosome

Chromosomal Location

102895262-102971521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102923490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 123 (N123K)

Ref Sequence

ENSEMBL: ENSMUSP00000042272 (fasta)

Gene Model

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

AlphaFold

E9PYY5

Predicted Effect

probably benign
Transcript: ENSMUST00000036451
AA Change: N446K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: N446K

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

possibly damaging
Transcript: ENSMUST00000036557
AA Change: N123K

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
AA Change: N123K

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

probably benign
Transcript: ENSMUST00000106868
AA Change: N446K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: N446K

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

probably benign
Transcript: ENSMUST00000116316
AA Change: N446K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: N446K

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: ENSMUST00000136355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138960

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,407,995 (GRCm39)	F107L	possibly damaging	Het
Adam30	G	T	3: 98,068,787 (GRCm39)	V79F	probably benign	Het
Akap8l	T	C	17: 32,557,246 (GRCm39)	R122G	probably damaging	Het
Apc	T	A	18: 34,443,772 (GRCm39)	S570R	probably damaging	Het
Btnl10	A	G	11: 58,810,141 (GRCm39)	E94G	probably damaging	Het
Col25a1	A	T	3: 130,182,597 (GRCm39)		probably benign	Het
Cubn	A	C	2: 13,344,657 (GRCm39)	I2208S	probably damaging	Het
Cyp17a1	A	T	19: 46,661,046 (GRCm39)	Y79*	probably null	Het
Dach1	T	A	14: 98,138,865 (GRCm39)	H474L	possibly damaging	Het
Dscaml1	A	T	9: 45,595,080 (GRCm39)	I728F	probably damaging	Het
Erp29	G	T	5: 121,590,305 (GRCm39)	S33R	probably benign	Het
Fat3	A	C	9: 15,826,648 (GRCm39)	S4435A	possibly damaging	Het
Fbxw13	T	C	9: 109,010,484 (GRCm39)	I385V	probably damaging	Het
Hspg2	T	C	4: 137,279,565 (GRCm39)	M3160T	probably benign	Het
Lrrc28	C	T	7: 67,209,605 (GRCm39)		probably null	Het
Myh15	T	C	16: 48,965,707 (GRCm39)	V1204A	probably benign	Het
Or5b104	T	C	19: 13,072,221 (GRCm39)	S91G	possibly damaging	Het
Pcare	T	A	17: 72,058,076 (GRCm39)	I534F	probably damaging	Het
Pde5a	G	A	3: 122,596,710 (GRCm39)	E434K	possibly damaging	Het
Pgr	T	A	9: 8,965,111 (GRCm39)	V753E	probably damaging	Het
Pik3c3	T	A	18: 30,445,703 (GRCm39)	S563R	possibly damaging	Het
Ppt2	A	G	17: 34,844,728 (GRCm39)		probably benign	Het
Prg4	T	A	1: 150,331,619 (GRCm39)		probably benign	Het
Pygo1	G	T	9: 72,852,683 (GRCm39)	S290I	possibly damaging	Het
Ralgapa1	G	T	12: 55,689,262 (GRCm39)	H1946N	possibly damaging	Het
Rap1gds1	A	G	3: 138,661,232 (GRCm39)		probably benign	Het
Sema4g	G	A	19: 44,985,854 (GRCm39)	R256H	probably damaging	Het
Slc22a12	T	G	19: 6,587,844 (GRCm39)	D370A	probably benign	Het
Spata16	G	A	3: 26,967,483 (GRCm39)		probably null	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpv6	A	T	6: 41,604,551 (GRCm39)		probably benign	Het
Vwa8	T	G	14: 79,221,649 (GRCm39)	L535R	possibly damaging	Het

Other mutations in Dnai4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Dnai4	APN	4	102,960,439 (GRCm39)	missense	possibly damaging	0.77
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
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

2014-05-07